Emerging Role of Stress Perfusion

Cardiovascular Magnetic Resonance

in the Patient with Congenital Heart
Disease

Andrew M. Crean, Djeven P. Deva, and Rachel Wald

Contents Interpretation of Stress Perfusion CMR . . . . . . . . . . . 10

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 Limitations of Stress Perfusion CMR . . . . . . . . . . . . . . 11
Limitations of Conventional Methods Treadmill Stress CMR: Perfusion and
of Assessment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Wall Motion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11
The Comprehensive Nature of the CMR Data from the Adult Ischemic Stress
Examination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 CMR World . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12
Limitations of CMR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 Stress Perfusion CMR in Patients Following
Arterial Switch . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13
Physical Preparation of the Stress Patient . . . . . . . . . 5
Stress Perfusion CMR for Anomalous Left/Right
Mental Preparation of the Stress Patient . . . . . . . . . . 6 Coronary Artery from the Pulmonary Artery
Choice of Vasodilator Agent . . . . . . . . . . . . . . . . . . . . . . . . 6 (ALCAPA/ARCAPA) . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

Assessment of Vasodilator Effect on the Stress Perfusion CMR in Kawasaki Disease . . . . . . . 14

Patient . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 Stress Perfusion CMR in Assorted Other
Monitoring for Stress Perfusion CMR . . . . . . . . . . . . . 8 Congenital Lesions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15

Practical Aspects of Performing Stress Perfusion Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18

CMR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

A.M. Crean (*)

Division of Cardiology, University of Cincinnati Medical
Center and Cincinnati Children’s Hospital Medical Center
and Joint Department of Medical Imaging, Toronto
General Hospital, Toronto, Canada
e-mail: andrewcrean@gmail.com
D.P. Deva
Department of Medical Imaging, St Michael’s Hospital,
Toronto, Canada
e-mail: devad@smh.ca
R. Wald
Division of Cardiology and the Joint Department of
Medical Imaging, Toronto General Hospital, Toronto,
Canada
e-mail: rachel.wald@uhn.ca

# Springer-Verlag London 2016 1

E.M. Da Cruz et al. (eds.), Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care,
DOI 10.1007/978-1-4471-4999-6_250-1
2 A.M. Crean et al.
Abstract
Rapid advances in surgical repair of congenital
heart disease has led to ever increasing num-
bers surviving into adult life. A proportion of
adult congenital heart disease (ACHD) patients
will have had direct surgical intervention upon
the coronary arteries which renders them vul-
nerable to issues in later life. There is no
accepted method for either the surveillance of
these patients nor for their investigation when
presenting with new symptoms. This chapter
argues for a shift in paradigm away from test-
ing associated with radiation (nuclear tech-
niques, computed tomography, coronary
angiography) to a paradigm where stress per-
fusion cardiac magnetic resonance (CMR)
imaging is used as a gatekeeper to determine
who needs go on for formal catheterization.
The technique of stress perfusion CMR is
discussed along with its benefits and weak-
nesses. Practical illustrations of the technique’s
utility are provided throughout the chapter.
Keywords
Anomalous left/right coronary artery from the
pulmonary artery (ALCAPA/ARCAPA) •
Arterial switch • Calcified conduits and calcific
masses • Cardiovascular magnetic resonance
(CMR) • Congenital heart disease (CHD) •
Coronary surveillance • Dark-rim artifact
(DRA) • Dipyridamole • Ischemic stress
CMR • Kawasaki disease • Nitinol-based
devices • Perfusion imaging • Regadenoson •
Stress perfusion CMR • Treadmill stress •
Vasodilator
Introduction
The success story that has been the surgical man-
agement of patients with congenital heart disease
(CHD) over the last 50 years has brought its share
of challenges due to the “unnatural history” fol-
lowing repair. Our patients are not only born with
coronary anomalies but may have coronary abnor-
malities created by the surgical procedures them-
selves. Although we tend to think of the rare and
fascinating coronary anomalies – the anomalous
left or right coronary artery from the pulmonary
artery, the anomalous left or right coronary artery
from the opposite sinus, etc. – these patients are in
fact outnumbered by those who have undergone
coronary reimplantation procedures as part of a
Ross, Bentall, or Jatene arterial switch operation.
This latter group represents a particularly interest-
ing challenge for management and surveillance
for several reasons: this is not a rare operation at
any large congenital center; the patients need to be
followed for many years; as children the typical
presentations of ischemic chest pain recognized in
the adult may be absent; and sudden cardiac death
has been occasionally reported as an unfortunate
first (and last) indicator of a previously
unsuspected coronary problem.
There is a second large group of patients who
are typically also followed by pediatric cardiolo-
gists (and then often graduate to adult congenital
cardiologists), despite being born with structur-
ally normal hearts – these are the children who
succumb to Kawasaki disease, a proportion of
whom will develop cardiac abnormalities as part
of the inadequately named mucocutaneous lymph
node syndrome. The coronary aneurysms that
result in some cases may have important effects
on distal coronary flow that pass unrecognized,
particularly in children, and the natural history of
these aneurysms in adult life is not well
understood.
Regular coronary surveillance is therefore
appropriate for several patient populations
followed in congenital heart centers. The literature
supplies advocates for almost any of the available
imaging modalities: computed tomography, echo,
nuclear, and catheterization, although there are
almost no large studies in this area. In this chapter,
we would like to present our experience that stress
perfusion cardiovascular magnetic resonance
(CMR) imaging is not only the most appropriate
test for these children and young adults but is also
– quite simply – the most complete of the imaging
modalities. The following section will discuss in
greater detail the comprehensive nature of CMR,
while subsequent sections will deal with the prac-
tical procedural elements of performing stress
CMR, its applications in the patient groups
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
described, the evidence base for stress CMR in the
adult ischemic world, and the (very) limited cur-
rent data on stress CMR for patients with congen-
ital heart disease.
Limitations of Conventional Methods
of Assessment
One of the unique challenges facing congenital
heart patients is the requirement for lifelong
follow-up. In patients with coronary “issues” or
in whom coronary artery reimplantation has been
performed, this challenge is particularly relevant.
As physicians we seek to limit radiation exposure
to our patients, and yet many of our conventional
methods for assessing the coronary arteries
involve ionizing radiation. The use of ionizing
radiation in congenital populations was described
in a recent European-wide registry, which
highlighted the potential for significant cumula-
tive lifetime doses in our patients [17].
There has historically been a very heavy
dependence upon cardiac catheterization in con-
genital heart disease. Not only is it available at
every major center, it provides unparalleled visu-
alization of the coronary arteries with a spatial
resolution that is still not really approached by a
modern method of noninvasive imaging. While
this is certainly necessary in the preoperative
period or if there are major coronary concerns,
catheterization is expensive, is disliked by some
patients, and comes with a small risk of serious
morbidity and death. It is thus not an ideal tech-
nique to use in routine follow-up for coronary
surveillance, although even in this situation it
has its advocates.
Perfusion imaging with radionucleotide iso-
topes (thallium, technetium, etc.) has been avail-
able for many years, is easy to perform and readily
available, and is well tolerated by patients. The
basis of perfusion imaging (nuclear and magnetic
resonance) is the induction of differential tracer
flow down the arteries which vasodilate normally
versus those which are narrowed, distorted, or
obstructed. Stress may be performed by treadmill
exercise in which case there is also the advantage
of having workload data and assessment of ECG
3
change. For congenital patients who are unable to
exercise adequately, vasodilators such as adeno-
sine or dipyridamole may be used to induce coro-
nary hyperemia (note not ischemia – a common
misconception regarding vasodilator stress).
Vasodilator stress is well tolerated and incred-
ibly safe with a very low major adverse cardiac
event rate borne out by millions of pharmacologic
stress nuclear studies throughout the world. For
reasons of availability, ease of performance, and
patient acceptability, nuclear stress perfusion has
become widely accepted as one of several “first-
choice” techniques in European and (particularly)
North American congenital institutions. However,
physicians referring their patients for these studies
often have only a hazy idea at best of the dose
associated with this test [5]. Many are surprised to
learn that it is equivalent in dose to roughly 3–4
coronary angiograms (technetium – rest/stress
dose approximately 15 mSv) or as high as 8 coro-
nary angiograms (thallium – rest/stress dose
approximately 40 mSv).
While all data linking exposure to subsequent
cancer is questionably based upon theoretical
assumptions derived from the Nagasaki and Hiro-
shima events – as well as an unproven assumption
of a linear no-threshold relationship between dose
and malignancy – physicians are nevertheless
appropriately seeking to shield their (young,
radiosensitive) patients from the excesses of the
past. A further limitation of nuclear cardiology
reflects the physical limitation of current equip-
ment. Post-collimator spatial resolution is in the
order of 8–10 mm – since this is approximately
the same as transmural myocardial thickness, it
can be difficult to recognize subendocardial ische-
mia or balanced three-vessel disease. This is a
point we will return to in subsequent discussion
about stress perfusion cardiovascular magnetic
resonance (CMR) imaging.
Treadmill stress echo has been historically
underused in congenital populations for reasons
that are not entirely clear but may reflect dominant
adult experience in the ischemic world with much
lower levels of experience/confidence in the tech-
nique in pediatric institutions. However, even
adult congenital institutions appear less enthused
with this method of assessment compared to the
4 A.M. Crean et al.
alternatives of single-photon computed emission
tomography (SPECT) or CMR imaging. This is a
pity because the need in coronary surveillance is
to rule out significant flow limitation – which is
something stress echo does particularly well. A
further advantage is the availability, again, of
workload and ECG data. Finally, of course, there
is no exposure to ionizing radiation at all with this
technique, making it attractive for long-term fol-
low-up. Patients unable to adequately raise their
heart rate by exercise can be stressed by
dobutamine infusion with little or no change in
the sensitivity and specificity of the test. One
limitation of the technique is the need for a rea-
sonable echo window, which may be difficult or
limited in patients with chest wall deformity or
simple obesity. There is also a rather
unquantifiable “impression” among many cardi-
ologists that reading stress echo is a rather dark art
and somewhat subjective. While these authors
would challenge that opinion, there is of course
little or no data to support the argument either way
in the congenital field.
It is fair to say that the whole area of imaging in
congenital heart disease is riddled with opinions,
conjecture, and personal beliefs stated as gospel
truth. Data are very limited even for well-
established techniques like SPECT, are almost
nonexistent for stress echo, and are only just
starting to emerge for stress CMR. In the rest of
this chapter, the authors will share their bias in
favor of stress CMR, explaining why we hold
these opinions and what little published evidence
exists.
The Comprehensive Nature of the CMR important limitations. The magnet bore is claus-
Examination trophobic to a small percentage of individuals
The principal advantage of CMR over all other
forms of imaging is its comprehensive nature.
Manipulation of the water protons intrinsic to the
patient by use of strong switching magnetic fields
results in the ability to characterize tissue with
much greater contrast resolution than any other
technique. Various “weightings” can be applied,
designed to enhance the visibility of edema, fibro-
sis, thrombus, etc. Vascular structures can be
demonstrated by administering gadolinium-
based contrast agents (magnetic resonance angi-
ography) and myocardial scarring identified using
the technique of late gadolinium enhancement
(LGE) imaging in which images of the heart are
acquired 10–15 min after a bolus of contrast,
allowing for differential washout between normal
and abnormal areas of the myocardium
[8]. Through a process of cardiac gating to the
ECG, it is possible to acquire so-called “seg-
mented” cine images in which data acquired
over a number of heart beats is used to build up
a composite beating image of the heart with an
effective temporal resolution in the order of
35 milliseconds. Similar techniques can be
employed to visualize flow in vascular structures
providing information (via a very different phys-
ical principle) similar to Doppler echocardiogra-
phy [28]. Phase-contrast imaging of this sort
allows for the relatively precise measurement of
flow volumes as well as peak and mean velocity in
the user-defined region of interest. Finally, user-
defined imaging planes can be prescribed in any
orientation to acquire anatomically helpful images
aligned to the anatomy of interest without any
limitation by body shape or imaging “window.”
Therefore – in a comprehensive CMR exam – it is
possible to acquire valuable information about
anatomy, function, flow, perfusion, and fibrosis
in a protocol that takes less than 60 min to perform
and without any ionizing radiation at all.
Limitations of CMR
Despite its many advantages, CMR has several
with an examination refusal or non-completion
rate of around 5 %. The newer magnets with a
70 cm diameter bore compare favorably with the
standard 60 cm bore present in most 1.5 T sys-
tems, although the latter remain much more prev-
alent. Some patients who appear initially reluctant
to enter the magnet can be reassured by a combi-
nation of either medication or eye shield. Pediatric
institutions sometimes have third-party equip-
ment that makes it possible to show videos inside
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
the magnet (using specially adapted goggles),
which greatly improves scanning tolerance in
children older than 5 years.
Implanted medical devices fall into two cate-
gories – those such as pacemakers, defibrillators,
and aneurysm clips are considered relatively solid
contraindications to routine CMR, although there
is a growing literature surrounding safe scanning
of patients with the first two types of device. The
second category relates to implanted ferromag-
netic devices which pose no safety issue to a
patient in a scanner but may significantly impair
local image quality due to disturbance of magnetic
field uniformity. Such devices include Blalock-
Taussig shunt clips, atrial septal defect closure
devices, metallic heart valves, coronary stents,
Harrington spinal rods, etc. However, the greatest
degree of field distortion is seen with stainless
steel coils used for vessel embolization, as well
as Fontan fenestration closure devices – the level
of artifact from these often precludes adequate
visualization of the anatomy in question. Nitinol-
based devices, in contrast, cause relatively focal
field disturbance such that patients who have had
nitinol atrial septal defect closure devices can
usually be scanned without problem. On further
peculiarity of CMR is its relatively poor sensitiv-
ity for identifying calcium. This is because the
protons within calcified structure are fixed in a
relatively rigid lattice and do not generate much
signal. Calcified conduits and calcific masses may
therefore occasionally be overlooked by CMR
since they tend to simply appear dark – with
experience, this appearance is usually
recognizable.
Finally, the magnet is not an ideal environment
for sick patients. Not only do unwell patients
rarely tolerate the breath-hold and prolonged
examination times that may be required, but
hemodynamically unstable patients cannot be
managed safely due to limitations of access and
monitoring. Similarly patients with cognitive
impairment often find it impossible to lie still
and follow commands regularly, leading to
blurred and suboptimal studies. In all of these
situations, the most acceptable solution is often
to consider an alternative test or else to proceed
with full general anesthesia, proper monitoring,
5
and trained support. Magnet-compatible anesthe-
sia machines and crash trolleys are available but
attention also needs to be paid to the proper
screening of itinerant anesthesiology personnel
to ensure magnet safety.
Contraindications to stress CMR are relatively
few and reflect the usual contraindications to any
MR exam (non-MR-compatible devices, claustro-
phobia, pregnancy, etc.) as well as the standard
contraindications to vasodilator stress agents
(asthma, regular dipyridamole use, second- or
third-degree heart block).
Physical Preparation of the Stress
Patient
The commonest reason for an inadequate stress
examination is consumption of caffeine in the
24 h preceding the test. Caffeine acts as a compet-
itive antagonist at the adenosine receptor and may
lead to an inadequate vasoactive response with
submaximal coronary hyperemia. Since it is hard
to recognize whether maximal hyperemia has been
reached clinically, it is common practice among
stress labs to ban caffeine consumption for a min-
imum of 24 h prior to the examination to ensure an
optimal response. Information sent to the patient at
the time of booking should include a diet sheet
explaining that abstention from caffeine includes
nonconsumption of all caffeine-containing sub-
stances including coffee, tea (brewed, green,
black), hot chocolate, sodas (including so-called
“caffeine-free”), and energy drinks as well as choc-
olate and some over-the-counter analgesics and flu
remedies. Patients who admit to being nonadherent
at the time of examination are generally better off
being rebooked following an explanation of the
importance of these restrictions. There is occa-
sional merit in continuing with the exam in patients
who have come a long distance and have consumed
minimal caffeine [55]; this however remains con-
troversial [3, 7, 36].
All patients require intravenous access prior to
going into the magnet room. It is preferable for
access to be established in a large antecubital vein
in order to be able to inject at relatively high flow
rates.
6 A.M. Crean et al.

Mental Preparation of the Stress
Patient
One of the most important parts of the prestress
preparation is the process of informed consent,
which should be sought prior to every exam.
This is not simply a medicolegal nicety but offers
a real opportunity to coach the patient in what to
expect when they are in the magnet. Patients are
often nervous, and liberal use of the word “stress”
rarely helps, evoking as it does an image of a
sweating, palpitating figure perhaps clutching
his/her chest in discomfort! In truth, the drugs
used for stress perfusion are remarkably safe and
generally very well tolerated. It is worth
reemphasizing – to the reader – that the aim of
vasodilator stress (unlike dobutamine or treadmill
stress) is not to induce ischemia but rather to
uncover relative differences in myocardial perfu-
sion reserve through differential vasodilatation of
normal and abnormal coronary beds. Patients may
be alarmed to be told they will be “stressed” and
should be reassured that the medications will not
make the heart race wildly or thump heavily and
that, in general symptoms, will be relatively mild.
We prefer to use the term “myocardial blood flow
imaging” rather than stress imaging when we
consent patients since we feel this reflects a more
accurate – and sedate – picture of what will take
place. It is important, however, to describe the
commonest side effects, which are listed in
Table 2. Mental preparation is every bit as impor-
tant as physical preparation. Limited survey data
suggest that stress perfusion CMR – when
performed well – is overall tolerated no worse
than perfusion SPECT [45].
Choice of Vasodilator Agent
There are three vasodilator agents currently com-
mercially available for stress imaging (CMR or
SPECT). These are adenosine, dipyridamole, and
a newer agent – not yet licensed worldwide –
called regadenoson. All three are from the same
family of drug, which works through alpha-
receptor blockade on the coronary endothelium
with resulting vasodilatation. Although for each
drug it is possible to find strong supporters, it is
the authors’ opinion that there is little practical
difference between them, with most of the touted
advantages and disadvantages (Table 1) reflecting
personal preferences rather than hard data.
Adenosine is probably the drug used most
often in stress CMR and most of the larger series
have been performed using this agent. This prob-
ably reflects an early uncertainty with the safety of
performing stress in the magnet environment and
a concomitant wish to be able to “turn off stress”
quickly – achievable due to the very short half-life
of the drug. The half-life, however, also necessi-
tates a second intravenous line since gadolinium

Table 1 Comparison of vasodilator agents [19]

Dipyridamole
iv infusion over 4 min
Long half-life
Gradual onset of symptoms
Peak intensity of symptoms: usually
mild
Reversal usually given
Very cheap almost everywhere
Only 1 iv line required overall
(gadolinium given after drug)
Nonselective alpha-agonist
Requires calculation of dose based on
body weight
Adenosine
iv infusion over 4 min
Very short half-life
More rapid onset of symptoms
Peak intensity of symptoms:
usually moderate
Reversal rarely required
Fairly cheap in most countries
2 iv lines required overall (second
line for gadolinium)
Nonselective alpha-agonist
Requires calculation of dose based
on body weight
Regadenoson
30 s bolus iv injection
Short half-life
More rapid onset of symptoms
Peak intensity of symptoms: usually
mild to moderate
Reversal occasionally required
Expensive and not universally
approved
Only 1 iv line required overall
(gadolinium given after drug)
Selective A2a receptor agonists
(relatively safe in asthma)
Single pre-prepared dose regardless of
body weight
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Table 2 Common side effects of vasodilator agents
Cardiovascular Respiratory
Facial flushing (18 %) Shortness of breath (12 %)
Headache (2 %) Chest pressure (7 %)
Sweating (rare) Hyperventilation (1–2 %)
Palpitations (rare)
Chest pain (common but mild)
Hypotension (<1 %)
bolus must be administered while the vasodilator
is still being infused. These – together with the
relatively sudden onset of side effects felt by
patients – are the two principal disadvantages of
adenosine.
Dipyridamole has been used and continues to be
used, extensively in nuclear laboratories through-
out the world. Like adenosine it has an extremely
good safety profile with a vanishingly low inci-
dence of serious or life-threatening events. It may
be infused or – conveniently – given by slow hand
injection (thus obviating the need for expensive
magnet-compatible pumps, or else long lengths of
tubing passing out of the magnet room to a standard
infusion pump). Its principal breakdown product is
adenosine, and since this breakdown must take
place for active drug to be produced, the onset of
symptoms is slower than for adenosine and their
overall intensity appears reduced.
Occasional concerns are voiced that diagnostic
accuracy might be reduced for dipyridamole com-
pared to adenosine. In the authors’ experience,
these concerns are not borne out in real life. The
drug is given, like adenosine, over 4 min but
because of the need for conversion to occur,
peak vasodilatation does not occur for another
2–3 min; this provides ample time to slide the
patient back to the isocenter of the magnet in
order to run the perfusion sequence.
The principal disadvantage of dipyridamole is
its longer half-life, which raises concerns that a
stress-rest protocol could actually be a stress-
stress protocol if its alpha-agonist effects have
not adequately worn off. This is a valid concern,
and in our laboratory, we administer the compet-
itive antagonist aminophylline (1–1.5 mg/kg iv)
to all patients post-stress (regardless of severity of
symptoms and including the asymptomatic), to
7
CNS Gastrointestinal
Lightheadedness (2 %) Nausea (3 %)
Dizziness (rare) Metallic taste (common)
Arm tingling (rare) Vomiting (<1 %)
Numbness (rare)
ensure that the rest images are acquired under
genuinely non-vasodilated conditions.
Regadenoson is the newest agent on the market
and comes as a single prepackaged dose (indepen-
dent of body weight), which is given as an intra-
venous bolus by hand injection. It is quick and
easy to use as a result and has an onset of action
and duration of effect somewhere between the
other two agents. It too will need to be reversed
if stress and rest are not separated by at least
30 min of other imaging. Its principal disadvan-
tage is price and the fact that it has not been
approved for clinical use in all worldwide juris-
dictions. All three agents produce similar side
effects (Table 2).
Assessment of Vasodilator Effect
on the Patient
Crucial to interpretation of stress imaging is the
confidence that the “stress” portion of the test has
been adequate. This is easy to judge with treadmill
or dobutamine stress where an age-adjusted heart
rate is the target, but more challenging with vaso-
dilator stress where adequacy of vasodilatation
cannot be directly monitored. The stimulation of
alpha-receptors by the three vasodilator agents
can produce a range of effects (Table 2). It is
usual for a patient to experience both physiologi-
cal and pharmacological effects which should be
described in the clinical report and form part of the
internal quality control of the examination. The
commonest side effects experienced are mild
breathlessness, chest heaviness (occasionally
pain), and headache.
The earliest sign of onset of drug action can
often be seen when conversing with the patient at
8 A.M. Crean et al.
the table-side while supervising the infusion. A
patient who has been talking freely becomes
noticeably less “chatty” at around 2 min from
the start of infusion and often needs to be
reassured at this point that their sense of unease
is being provoked by the medication and to be
expected. Frank symptoms usually develop soon
thereafter.
Severe symptoms are very unusual but can
reflect severe underlying three-vessel disease,
and, on these rare occasions, an individual judg-
ment has to be made about whether to run the
perfusion sequence somewhat prematurely or
even abandon the study at that point. Regardless,
patients generally respond very quickly to the
discontinuation of the infusion and/or the admin-
istration of aminophylline. In the authors’ per-
sonal experience, they have only had to consider
administering iv beta blocker in a single case out
of over 3000 stress CMR studies – symptom
severity of this extent should prompt termination
of the exam and transfer to an area where full
clinical assessment including a 12-lead ECG can
be performed. Nevertheless, such experiences are
extremely unusual.
The physiological changes expected with
stress are discussed in the next section.
Monitoring for Stress Perfusion CMR
Monitoring patients undergoing stress perfusion
CMR is similar to that undertaken in the nuclear
laboratory. All patients have a baseline record of
pulse, saturations, and blood pressure, and these
recordings are made – in our lab – at 1 min intervals
until the point of injection of gadolinium. Once the
perfusion sequence has finished running, the
patient is brought outside the bore of the magnet,
and monitoring every minute is performed for the
following 5 min by which time it is common for
symptoms to have entirely resolved and hemody-
namics to be returning to normal.
Several important points should be noted.
Firstly, it is important not to place the blood pres-
sure cuff on the arm into which vasodilator agent
is being infused – the risk being that a quantity of
drug builds up in the forearm while the cuff is
inflated only to be released as a bolus on deflation
returning centrally to the heart and potentially
causing heart block or ventricular standstill.
Secondly, the ECG monitor is only reliable for
detecting ST segment shift while the patient is
outside the bore of the magnet. Once inside the
pulsatile movement of blood through the aorta
results in production of a current which causes
distortion of the ST-T wave complex, making
interpretation difficult or impossible. Since vaso-
dilator stress only very rarely leads to inducible
ischemia (as opposed to inducible changes in per-
fusion reserve), this is more of a theoretical than
practical concern of which to be aware.
The use of continuous oxygen saturation mon-
itoring may be regarded as excessive by some –
however, its principal benefit is not in measuring
oxygen saturation (which is unlikely to change
unless the patient were unfortunate enough to go
into pulmonary edema, a highly unusual scenario)
but in providing an audible account of the
patient’s heart rate; heart block induced by stress
agent is very quickly recognized, even if not
studying the ECG, through the gap between audi-
ble beeps that occurs with any alteration from the
normal cardiac cycle length.
There are differing opinions about whether the
patient should be stressed on the MR table outside
or inside the bore of the magnet. The advantage of
stress outside the bore (our approach) is that it is
possible to directly visually and verbally monitor
the patient and usually helps to keep them calm
when symptoms first develop. It is important to
emphasize that even people with completely nor-
mal coronary arteries may experience chest dis-
comfort and breathlessness and that onset of these
symptoms is in fact to be welcomed since it proves
the drug is having its desired physiological effect.
The principal advantage to stressing with the
patient already at magnet isocenter is that it saves
time, which may be helpful – particularly when
adenosine is used as the vasoactive agent – since
the gadolinium bolus needs to be given, while this
drug is still being administered (see next section).
The expected hemodynamic changes from all
forms of vasodilator stress are relatively minor
regardless of the chosen agent. It is usual to see
a heart rate increase by a mean of 10–15 beats per
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
minute (occasionally up to 30–40 beats/min) with
a drop in systolic blood pressure of a mean of
7–10 mmHg. These effects are generally notice-
able by the third minute after starting the infusion/
injection. It bears repeating that since these agents
do not work by inducing ischemia per se, there is
no “target heart rate” to aim for as there is in
dobutamine stress. There is no clearly defined
relationship between the degree of hemodynamic
response and extent of change in coronary flow.
Conversely, however, almost all patients would be
expected to demonstrate some hemodynamic
change from baseline as well as symptoms of a
mild-to-moderate extent (see Table 2).
Occasionally, patients with long-standing dia-
betes may fail to develop overt symptoms – how-
ever such patients should still demonstrate a
change in heart rate and/or blood pressure with
stress. A failure of hemodynamic response
together with a lack of any real symptoms should
be grounds for concluding that the patient may not
have sufficiently abstained from caffeine. A neg-
ative test in these circumstances should be treated
with appropriate circumspection and alternative
investigation may be appropriate.
Practical Aspects of Performing Stress
Perfusion CMR
The fundamental aim of all CMR stress sequences
(of which there are many varieties) is the same.
The wish is to get as much anatomical coverage of
the left ventricle (i.e., as many slices) as possible
at the highest achievable spatial resolution and
with the best possible temporal resolution – that
is to say, with repetitive slice updating every heart
beat during the wash-in of contrast. Unfortunately
these requirements are all mutually conflicting
and compromises are required. Product perfusion
sequences currently allow for acquisition of
3 slices per heart beat assuming a mild tachycardia
is produced by vasodilator stress.
The precise in-plane spatial resolution has to be
optimized per patient in order to allow the acqui-
sition of 3 slices per cardiac cycle. Too high a
spatial resolution will result in fewer slices
acquired per heart beat, i.e., less coverage of the
9
left ventricle. Too low a resolution runs the risk of
inadequate spatial discrimination of the
subendocardium from the subepicardium, which
is one of the prime benefits of CMR compared to
nuclear perfusion. In practice it is usually possible
to acquire an in-plane spatial resolution of roughly
1.7  1.7 mm (with a standard slice thickness of
8–10 mm through plane) and almost never worse
than 2.5  2.5 mm in plane which is substantially
better still than the 8–10 mm resolution of con-
ventional gamma cameras. Recommendations
from the Society for Cardiovascular Magnetic
Resonance suggest a target of no worse than
2  2 mm for perfusion, which is achievable, in
the authors’ experience, in 95 % of cases [26].
Perfusion slices are conventionally acquired in
the short axis and are prescribed at basal, mid, and
apical left ventricular levels, thus achieving cov-
erage of 16 out of the 17 recommended American
Heart Association (AHA) segments [6]. The 17th
segment (true apex) represents only a small vol-
ume of total myocardium and its absence does not
appear to significantly impair diagnostic accuracy.
In patients with relatively slow heart rates (even
after vasodilator), it is possible on some manufac-
turer systems to fit in a fourth slice acquired in a
long-axis plane, either 2 or 4 chamber as selected
by the operator – in these cases the true apex is
also sampled.
There is disagreement in the literature about
the best order in which to perform stress and rest
perfusion. In truth the lack of consensus suggests
it doesn’t really matter although there are theoret-
ical arguments supporting both positions. Propo-
nents of rest-first imaging suggest that the
experience (including the prolonged breath-hold
required) acts as a “training run” for the patient,
which therefore improves the quality of the stress
images subsequently acquired. They also argue
that if rest perfusion is performed after the patient
has already received contrast (for the stress por-
tion), then there is a risk that areas of infarction
will have taken up contrast and may not be visible
as perfusion defects. Although true, this is rarely a
problem since the most effective method for iden-
tifying scar – late gadolinium enhancement (LGE)
imaging – is routinely performed at the end of all
stress CMR protocols.
10
Protagonists of the stress-first approach (includ-
ing these authors) contend that this allows the most
important part of the study to be completed in case
the patient decides to terminate the overall study
prematurely. In addition, if stress appears normal, a
reasonable approach may be to drop the rest portion
entirely, thus shortening the overall examination.
The next decision relates to the dose of gadolin-
ium and the speed at which to inject. There are
limited data to suggest that a dose of 0.1 mmol/kg
gadolinium-DTPA provides optimal enhancement
for visual assessment of perfusion defects. This is
our experience also and has the advantage that it is
also a sufficient dose with which to perform LGE
imaging even if the decision to drop the rest portion
of the study is made. There are valid arguments that
can be made pertaining to the loss of linearity
between gadolinium concentration and measured
signal intensity at doses above 0.05 mmol/kg; how-
ever, this only becomes an issue when a fully
quantitative measurement of perfusion by CMR
in ml/min/g of myocardium is required. This is a
research application of CMR and is not done rou-
tinely in any clinical laboratory in the world, to the
best of the authors’ knowledge.
Similar arguments relating to speed of injec-
tion or need for a dual-bolus injection (allows
measurement of true arterial blood pool upslope
by using a very low-dose preinjection prior to the
main injection) are essentially superfluous in
everyday clinical practice although references
are provided for the interested reader [18]. We
prefer to inject at 5 ml/s through a cannula situated
in a large vein in the forearm or antecubital fossa.
Although this reflects the standard wisdom, the
use of lower flow rates through more peripheral
cannulae in the hand – when that is all that is
practical – often works perfectly satisfactorily.
Interpretation of Stress Perfusion CMR
As mentioned in the last section, stress perfusion
CMR – when performed for clinical purposes – is
near-universally interpreted using qualitative visual
assessment [1]. In practice this translates into a
report describing the number and distribution of
segments demonstrating an inducible perfusion
A.M. Crean et al.
defect as well as an assessment of whether the defect
appears mild (soft appearances, subendocardial,
vanishes quickly on later images) or whether it
appears more severe (intenser, darker defects,
extending to subepicardium, more persistent).
One of the challenges faced by novice readers
is the separation of genuine perfusion defects
from artifact – this can be quite difficult on occa-
sion, and the best advice is simply to get to know
your pulse sequence (and stick with it), since
different sequences may generate a greater or
lesser degree of artifact. The principal mimic of
a perfusion defect is known as “dark-rim artifact”
(DRA) and although almost universally present to
some degree is usually distinguishable from a true
perfusion defect by virtue of its timing. DRA is
caused by very rapidly changing concentrations of
gadolinium in the left ventricular blood pool in the
early portion of contrast wash-in. This manifests
as a dark line in the subendocardial portion of
septum and often the anterior wall. The key to its
recognition is appreciation of the fact that the
“defect” is present from the earliest moments of
contrast washing into the ventricle, i.e., before
contrast could conceivably have reached the
aorta, passed into the coronary arteries, and cre-
ated a genuine perfusion defect. The transmural
extent of DRA also appears to be linked to the
in-plane spatial resolution of the image – aiming
for the highest achievable resolution (depending
on heart rate) will tend to minimize the issue [34].
Genuine perfusion defects therefore may be
recognized by a number of typical characteristics,
namely:
1. They occur only after contrast has reached the
ascending aorta.
2. They occur in relationship to one of the main
arterial territories.
3. They are present on several adjacent slices
within an arterial territory.
4. They persist for a minimum of 5 cardiac cycles.
5. They always involve the subendocardium
regardless of the extent of transmurality.
6. They tend to have “soft” rather than “hard”
margins if due to ischemia alone (harder mar-
gins, or very persistent defects, are often sug-
gestive of underlying scar).
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Limitations of Stress Perfusion CMR
Several limitations of stress CMR should be con-
sidered. The inability – with product pulse
sequence – to cover the entire left ventricular
mass at the time of stress perfusion is, in theory,
a significant limitation compared to nuclear tech-
niques, which encompass the entire ventricle.
However the recent large CEMARC trial, which
compared stress CMR to SPECT (with adjudica-
tion by coronary angiography) in approximately
750 chest pain patients, demonstrated that the
clinical stress CMR sequence used (which
involved only the typical coverage provided by
3 short-axis slices) resulted in clear diagnostic
superiority over SPECT despite incomplete ana-
tomical coverage [13]. It seems that a sufficient
percentage of the myocardium can be sampled
with only 3 slices. Despite this there is enthusiasm
within the CMR community for full coverage, and
the use of highly accelerated acquisition schemes
– beyond the scope of this chapter – has now made
it feasible to acquire up to 12 slices within a single
heart beat [23, 25]. Although not yet routinely
available for clinical use, such accelerated perfu-
sion sequences are likely to become mainstream
within the next 5 years and will finally allow the
CMR community to provide an overall burden or
“volume” of ischemia in the same way that
SPECT currently does. It seems probable that
this will allow physicians to more accurately strat-
ify future event risk.
Another limitation has been mentioned several
times already and relates to the nature of all forms
of vasodilator stress: the drugs used produce dif-
ferential coronary vasodilatation and flow between
normal and abnormal vessels but do not usually
provoke ischemia. Multiple studies combining
thousands of patients from the nuclear cardiology
literature suggest that acceptable levels of diagnos-
tic accuracy are possible despite this.
However, we should appreciate that the world
literature on stress imaging is effectively devoted
in its entirety to coronary atherosclerosis and
ischemic heart disease. There are virtually no
data on any form of stress – physical or pharma-
cological – in the congenital world. It is unknown
whether vasodilator stress is adequate, for
11
example, for assessing the interarterial anomalous
coronary artery arising from the opposite sinus – a
situation where some authors attribute the mech-
anism of ischemia and sudden cardiac death to
extrinsic compression of the artery between the
great vessels. If this is indeed the mechanism, then
perhaps exercise or dobutamine challenge might
be more appropriate forms of stress.
Similarly can we be sure – when assessing the
effect that stenting a conduit has on a nearby
coronary artery for example – that potentially
important extrinsic compression is as readily
demonstrable as intrinsic coronary atherosclerosis
is by vasodilator stress? These questions remain to
be answered, and these authors have seen at least
one case of unequivocal extrinsic coronary com-
pression, with symptoms and positive exercise
test, but negative stress CMR and suggest caution
is warranted in cases without intrinsic coronary
disease.
Treadmill Stress CMR: Perfusion and
Wall Motion
A recent interesting development in the field of
stress perfusion CMR has been the proposal that
exercise stress should be used in place of vasodi-
lator stress. This has several advantages (outlined
in previous sections) yet faces seemingly insur-
mountable practical obstacles. How would it be
possible to safely operate a treadmill in a magnetic
environment? How would it be possible to trans-
fer the patient at peak exercise quickly enough
back to the MR tabletop and gain the necessary
perfusion images without the drop in heart rates
(and endocardial wall stress) that would inevitably
occur in the 2–4 min that would be necessary to
re-localize the patient in space on the table (the
machine has to “know” where exactly the patient
lies on the table with reference to the center of the
magnet in order to accurately spatially localize the
slices required)?
At least one center seems to have found an
ingenious solution to both these problems. The
group at Ohio State University has published
details of a novel non-ferromagnetic treadmill
which can be safely placed immediately adjacent
12
to the bore of the magnet. They demonstrated the
feasibility of performing a full Bruce protocol
exercise test in 10 volunteers who were trans-
ferred to the MR tabletop and commenced image
acquisition within 24 s of reaching peak exercise
[10]. On average, imaging was completed in 40 s
from peak exercise by which time the maximum
heart rate was still 81 +/ 9 % of age-predicted
maximum (i.e., stress conditions were effectively
maintained during the exam). This study therefore
extends a previously published work in which a
standard treadmill was positioned immediately
outside the magnet room door [38] and another
study from the Ohio group with a modified tread-
mill outside the 5 Gauss line, within the MR room
but not immediately adjacent to the table [22].
It remains to be seen how well this ingenious
approach translates in to clinical real-world prac-
tice, as it requires additional investment in mate-
rials, monitoring, and training. The pulse sequence
used for perfusion is also germane since this study
employed a hybrid gradient echo-echo planar read-
out in order to achieve sufficient anatomical cover-
age at much faster heart rates than are seen with
vasodilator stress. These readouts are faster than
the conventional gradient echo readout, which is
most commonly used. However, there is a trend
toward performing stress perfusion at 3T because
of the higher signal-to-noise ratio available and
echo-planar readouts are not currently available at
this field strength. Despite these limitations, the
technique is particularly attractive to congenital
CMR imagers since it also offers the possibility
of unraveling the interaction between the myocar-
dium and valvular lesions and would allow the
measurement of provocable gradients and myocar-
dial reserve – all of which would be hugely useful
in many of our patients at various stages in the (un)
natural history of their congenital condition.
Data from the Adult Ischemic Stress
CMR World
Although we anticipate increasing enthusiasm for
this technique in the world of congenital heart
disease, current data in support of stress perfusion
A.M. Crean et al.
CMR are currently provided almost entirely by
the adult ischemic CMR community. Our own
institution appears to be one of the few who
have published their personal experience in stress
CMR for ACHD [56–58]. Important validation
studies have moved away from visual assessment
of percent diameter stenosis at catheter angiogra-
phy as a gold standard to more physiologic mea-
sures of reference including quantitative positron
emission tomography (PET) [40] and
intracoronary Doppler measurements of fractional
flow reserve [53].
Meta-analyses of the small initial studies raised
hope that the technique would be applicable clini-
cally [16]. Larger multicenter trials appear to con-
firm good diagnostic accuracy as well as improved
diagnostic accuracy compared to SPECT [13,
41]. These results established a clear diagnostic
superiority of CMR over SPECT and this trial has
placed stress perfusion CMR squarely in the clini-
cal arena. Finally another UK study, the CECaT
trial, randomized almost 900 patients with stable
chest pain to one of stress CMR, stress echo,
SPECT, or invasive angiography and followed the
patients for downstream resource use, outcomes,
and cost utility [43]. In this last study, there were no
significant differences in cost per quality-adjusted
life year between any of the 4 strategies indicating
noninferiority of using a noninvasive test as a gate-
keeper strategy to direct which patients should
subsequently undergo invasive angiography. Need-
less to say, however, none of these trials included
any patients with congenital coronary lesions.
Finally there exist limited data to suggest that
in a noncongenital adult population, either a neg-
ative stress perfusion CMR or a negative
dobutamine stress wall motion CMR is both asso-
ciated with very low cumulative event rates
(<3 %) in the following 3 years – and <1 % if
both perfusion and wall motion are normal when a
combined vasodilator/dobutamine study is
performed [20].
It remains uncertain whether any of these stud-
ies can be directly extrapolated to the world of
congenital heart disease. The limited data available
for stress imaging in various congenital cohorts are
presented in the remainder of the chapter.
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Stress Perfusion CMR in Patients
Following Arterial Switch
The arterial switch population appears superfi-
cially to be a cohort ready-made for coronary
problems given the surgical reimplantation of
the coronary arteries performed in neonatal life.
Indeed early reports of nuclear myocardial per-
fusion studies in these patients suggested a rela-
tively high rate of abnormality [52]. Despite this,
multiple subsequent publications have
highlighted a very low incidence of late serious
cardiovascular complications following arterial
switch surgery [11, 24, 27, 44, 46, 49, 51].
Furthermore one of life’s great intrinsic stress
tests – pregnancy – has not been shown to be
associated with any increase in cardiovascular
mortality [50].
Over the years there have been sporadic case
reports describing the use of stress perfusion CMR
in assorted congenital heart disease patients. How-
ever, the first published cohort experience with
stress perfusion CMR in a congenital population
with a single lesion comes from Manso et al. in
Barcelona [29]. They studied 28 patients between
the ages of 13–16 years, having undergone the
arterial switch operation (ASO) for d-transposition
of the great arteries in infancy. This is a particularly
relevant group to study given the concerns that
exist surrounding post reimplantation coronary
ostial distortion and the occasional but alarming
report of sudden cardiac death as the first major
symptom in postoperative ASO patients [12].
Using an adenosine stress perfusion CMR pro-
tocol very similar to that described earlier in this
chapter, the Spanish researchers were able to per-
form stress safely in all 28 subjects. Interestingly in
this group who were selected by invitation (i.e., an
asymptomatic population very similar to the large
majority of ASO patients in clinics around the
world), the authors were not able to appreciate
any perfusion defects at all by visual assessment.
This is consistent with our own (unpublished) data
in a similar number of adult ASO patients enrolled
into a research stress CMR perfusion protocol
where both qualitative and fully quantitative perfu-
sion measurements were within the normal range.
13
Our Spanish colleagues did demonstrate LGE
in five patients but in all cases this was confined to
the region of a ventricular septal defect patch
repair (i.e., patch material rather than true myo-
cardial fibrosis) – again this is similar to our own
experience. The Toronto study also compared
stress CMR findings to stress SPECT nuclear
scores acquired on the same day and showed a
relatively high level of defect “overcall” by
SPECT (judged against a reference standard of
coronary magnetic resonance angiography and
LGE). A recent positive example from our own
institution is shown in Fig. 1.
These two pilot studies suggest that stress
perfusion CMR may have a role in coronary
surveillance in this population, and the Toronto
study additionally implies that perfusion SPECT
has the potential to result in unnecessary down-
stream testing for further investigation of what
are highly likely to be artifactual perfusion
defects caused by breast attenuation or diaphrag-
matic motion.
Stress Perfusion CMR for Anomalous
Left/Right Coronary Artery from
the Pulmonary Artery (ALCAPA/
ARCAPA)
Perhaps the first recorded attempt to diagnose
ALCAPA by CMR occurred as early as 1988
although only simple black blood imaging was
available at that time [9]. Since then there have
been sporadic case reports which describe stress
perfusion CMR findings in this lesion [33] as
well as reports of ALCAPA patients intermingled
with other anomalies in combined series
[37]. Interestingly there appears to be a trend to
initial diagnosis in adult life being increasingly
made by either CT or CMR rather than angiog-
raphy (or autopsy) as was previously the case
[54]. Noninvasive follow-up is important for
these lesions even after repair since occlusion at
the site of left main reimplantation is not
unknown. We demonstrate repaired and
unrepaired examples from our own institution
in Figs. 2, 3, and 4.
14
Fig. 1 Twenty-three-year-old female with previous arte-
rial switch operation for transposition of the great arteries
who presented with atypical chest pain. Stress perfusion
cardiovascular magnetic resonance (a) demonstrates
subendocardial hypoperfusion in the anteroseptal, anterior,
and anterolateral walls (black arrowheads). The rest per-
fusion (b) and late gadolinium enhancement (c, d)
sequences are normal. Whole-heart navigator breath-held
steady-state free precession coronary sequence (e) appears
Stress Perfusion CMR in Kawasaki
Disease
Kawasaki disease is an acute inflammatory illness
in childhood which may result in coronary inflam-
mation and subsequent aneurysm formation.
Although not strictly a congenital heart lesion
(except possibly for innate predisposition),
patients with Kawasaki disease (KD) are usually
looked after by pediatric and, later, adult congen-
ital cardiologists, and hence a discussion of their
imaging requirements is appropriate in this
chapter.
American Heart Association guidelines sug-
gest regular follow-up for patients with KD
which needs to continue lifelong in those known
to have coronary aneurysms [35]. Recommended
modalities for follow-up are echocardiography
(especially in children) and regular nuclear studies
and/or coronary angiography – a strategy that
entails a high-radiation dose to a radiosensitive
A.M. Crean et al.
to demonstrate compression of the left main coronary
artery ostium. This is confirmed on coronary computed
tomographic angiography (f–h) which confirms that the
left main coronary artery (solid black arrow) is narrowed,
arising from an interarterial position (between the
neoaortic [AO] and neopulmonary [PA] roots). The left
anterior descending coronary artery (asterisk) and circum-
flex (white dashed arrow) coronary arteries are also
demonstrated
population of children and young adults. CMR –
with its ability to noninvasively depict the coro-
nary arteries as well as ischemia and scar burden –
would appear to be an ideal modality for regular
follow-up of this population and receives a class
1 recommendation in the Japanese Ministry
Guidelines [21].
A number of early CMR studies in KD focused
on the technical challenge of coronary wall imag-
ing [2, 14, 15, 30–32, 39, 47]. However prospec-
tive CMR studies of stress perfusion itself are
scarce. In the largest study, 63 KD patients
between the ages of 12–19 underwent a compre-
hensive CMR protocol, which included adenosine
stress perfusion and late gadolinium enhancement
imaging [48]. Four out of 15 patients with coro-
nary artery aneurysms also had stress perfusion
defects although it seems that all were matched by
late enhancement suggesting that they reflected
areas of prior infarction rather than ongoing
inducible ischemia. This was backed up by the
finding that 3 of these 4 cases also had
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Fig. 2 A 21-year-old female with a history of repaired
anomalous left coronary artery from pulmonary artery.
Two-chamber cine steady-state free precession
(a diastole, b systole) demonstrates thinning (solid black
arrows) and dyskinesia (dashed black arrows) of the mid
to apical anterior segments. Ventricular functional analysis
reveals a mild left ventricular dilation and moderate sys-
tolic dysfunction. Stress perfusion cardiovascular mag-
netic resonance (c) demonstrates transmural
hypoperfusion in the anterior wall defects in the anterior
demonstrable intra-aneurysmal coronary throm-
bus visible at coronary MRA and/or late gadolin-
ium enhancement imaging. In addition almost
10 % of the cases with coronary aneurysms were
not apparent at contemporaneous echocardiogra-
phy, highlighting the difficulty of coronary imag-
ing by echo in an older age group.
Our own experience in stress CMR for KD is
limited to a handful of adult cases. Nonetheless
we have anecdotally found it to be as useful as
Tacke et al. (above) [48]. Several of our patients
with positive stress perfusion were confirmed to
have significant coronary lesions at angiography
(Figs. 5 and 6).
There are currently no published multicenter
studies of stress perfusion CMR in Kawasaki
disease.
15
wall and subendocardial hypoperfusion in the anterolateral
wall and septum (hollow arrowheads). These defects are
absent on rest perfusion sequences (d). Late gadolinium
enhancement sequences (e–g) confirm an extensive partly
transmural anteroapical infarct (black arrowheads).
Whole-heart navigator breath-held steady-state free pre-
cession coronary sequence (h) demonstrates a patent
reimplanted left anterior descending coronary artery with
pericardial hood enlargement (asterisk)
Stress Perfusion CMR in Assorted
Other Congenital Lesions
One of the earliest series investigating the role of
perfusion CMR in patients with assorted congen-
ital heart lesions came from the Boston group
[37]. They looked at 30 patients (median age
13 years) with an assortment of diagnoses using
CMR to look for the presence of perfusion defects
and scar. Despite the title of the paper, the work
focused principally on the use of LGE imaging in
congenital patients – itself relatively unusual at
that time. Of the 17 patients who had first-pass
perfusion performed, only 4 actually underwent a
stress component (2 adenosine, 1 dipyridamole,
1 dobutamine), while the remaining 13 patients
16
Fig. 3 Asymptomatic 52-year-old male with unrepaired
anomalous right coronary artery from pulmonary artery.
Coronary computed tomographic angiography (a) demon-
strates the right coronary artery (solid black arrow) arising
from the right side of the pulmonary trunk (black asterisk)
just above the pulmonary sinotubular junction. Also visible
are the dilated left anterior descending coronary artery (L ),
left pulmonary artery (P), the ascending aorta (AA), and the
descending thoracic aorta (DA). Ventricular functional
analysis reveals normal-sized left and right ventricles
had resting perfusion only performed. Although
no meaningful conclusions can be drawn about
the utility of stress CMR given these small num-
bers, this was, nonetheless, a pioneering study in
the very early days of the technique.
The largest series to date of mixed congenital
lesions investigated by stress perfusion CMR
comes from the Zurich group who has long-
standing experience in applying this technique to
adults with ischemic heart disease [4]. Their paper
in 2009 described a single-center experience of
56 adenosine stress perfusion CMR studies
performed in 47 patients with a median age of
12 years. The mean examination time was just
under 70 min and 54 out of the 56 studies were
A.M. Crean et al.
with good systolic function (b – diastole, c – systole). On
the diastolic 4-chamber cine steady-state free precession
image (b) and on the short-axis late gadolinium enhance-
ment sequences, dilated septal perforator vessels are visi-
ble (black oval ring). There was no scar or infarct on late
gadolinium enhancement sequences (d) and there is no
evidence of hypoperfusion on stress (e) or rest (f) perfusion
sequences. The patient was managed conservatively due to
lack of symptoms and ischemia
judged of diagnostic quality. The 3 most common
diagnostic categories were ASO, Ross procedure,
and Kawasaki disease. Perfusion was judged visu-
ally normal in 38 cases and abnormal in 16. Diag-
nostic accuracy was assessed in the 31 patients for
whom the reference standard of coronary angiog-
raphy was available with a sensitivity of 87 % and
specificity of 95 %.
These results are particularly impressive when
one considers the technical challenges involved in
MR imaging of small children: general anesthesia
is often required; higher resting heart rates can be
challenging and are even more so during stress
when individual sequence optimization may be
required “on the fly” in order to fit 3 slices per
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Fig. 4 Nineteen-year-old male with remote history of peri-
operative proximal occlusion of repaired anomalous left
coronary artery from pulmonary artery with reproducible
atypical symptoms at rest. Stress perfusion cardiovascular
magnetic resonance (a) demonstrates extensive
subendocardial hypoperfusion in the left coronary artery
territory (white arrowheads). The hypoperfusion is absent
on rest perfusion sequences (b). There is a thin rim of
subendocardial enhancement in the anterior wall (solid
black arrow) on late gadolinium enhancement sequences
(c) smaller than the region of hypoperfusion on stress per-
fusion and consistent with a limited subendocardial infarct.
There is also enhancement of the anterolateral papillary
muscle group (dashed black arrow). Whole-heart navigator
breath-held steady-state free precession coronary sequence
(d) demonstrates a gap between the left sinus of Valsalva (+)
and the left anterior descending coronary artery. Gradient-
recalled echo sequence in 4-chamber view (e) demonstrates
the right coronary artery (white box), a right ventricular
branch (black box), and the left anterior descending
heart beat; and smaller iv size may necessitate
reduction in injection rate accordingly.
In another study from the Toronto Congenital
Cardiac Centre for Adults, we reported our
17
coronary artery (black circle). Coronary phase velocity map-
ping in 4-chamber view (f) at an encoding velocity of 70 cm/
s through the same coronary arteries demonstrates reversed
flow in the left anterior descending coronary artery. Volume-
rendered technique reconstruction of coronary computed
tomographic angiography (g, h) demonstrates the gap
between the left anterior descending coronary artery (L )
and the left sinus of Valsalva (+) due to previous proximal
occlusion of the surgically implanted left coronary artery.
The right coronary artery gives off a large conus branch (Co)
that further divides into two large branches (black asterisks)
as it extends to the cardiac apex. Curved multiplanar recon-
struction (I ) demonstrates that the large conus branch (Co)
communicates with the left anterior descending coronary
artery (L ) via a network of small caliber collaterals at the
apex (N). The left anterior descending coronary artery (L )
supplies the circumflex (Cx). RSoV right sinus of Valsalva,
RA right atrium, RV right ventricle, LVM left ventricular
myocardium, LVOT left ventricular outflow tract, LA left
atrium
findings in a similar cohort of 32 patients with
mixed lesions, although our population were sig-
nificantly older with a mean age of 31 years. The
top 3 underlying diagnoses in our cohort were
18
Fig. 5 Asymptomatic 17-year-old male with a history of
Kawasaki disease. Stress perfusion cardiovascular mag-
netic resonance (a) demonstrates subendocardial
hypoperfusion in the inferoseptal and inferior walls
(black arrowheads). The rest perfusion (b) and late gado-
linium enhancement (c) sequences are normal. Whole-
heart navigator breath-held steady-state free precession
coronary sequence demonstrates aneurysms (black
Kawasaki disease, anomalous coronary artery
from the opposite sinus, and anomalous left or
right coronary artery from the pulmonary artery.
Just under one third of scans (n = 10) were pos-
itive for inducible ischemia using a dipyridamole
stress perfusion CMR protocol of the kind previ-
ously outlined. Sensitivity and specificity in our
study were 82 % and 100 %, respectively (Cardi-
ology in the Young in press).
There are currently no multicenter studies of
stress perfusion CMR in congenital heart disease
either performed or underway. Clearly this will be
required before a definitive statement can be made
regarding the role of the technique in the overall
management and surveillance of this distinct
patient population.
A.M. Crean et al.
asterisk) in the left main coronary and left anterior
descending coronary arteries (d) and 3 aneurysms (+) in
the dominant right coronary artery (e). Invasive catheter
angiography demonstrates 2 sequential high-grade steno-
ses of the mid right coronary artery (solid black arrows),
which explains the reversible stress induced defect in the
inferoseptal and inferior walls
Conclusion
Stress perfusion CMR for congenital heart disease
is in its infancy. Large single-center experiences
are lacking. Multicenter studies are nonexistent.
Use of the technique in congenital heart disease
lags roughly 10 years behind its adoption in the
adult ischemic world. Only a handful of centers
are regularly using stress perfusion CMR to inves-
tigate their young patients despite its clear superi-
ority (in the authors’ view) over more traditional
methods. As the community becomes increas-
ingly radiation aware, this will change; indeed,
change may be necessitated by shortage or disap-
pearance of traditional isotopes.
Emerging Role of Stress Perfusion Cardiovascular Magnetic Resonance in the Patient with. . .
Fig. 6 Asymptomatic 20-year-old male with a history of
Kawasaki disease. Stress perfusion cardiovascular mag-
netic resonance (a) demonstrates subendocardial
hypoperfusion in abnormally thinned inferior and
inferolateral walls (black arrowheads). The hypoperfusion
is absent on rest perfusion sequences (b) but this is due to
enhancement of subendocardial enhancement of a signifi-
cant inferior to inferolateral wall infarct (black arrowheads
with white outline) confirmed on late gadolinium
Since many congenital patients are already
followed using general CMR techniques, it will
likely become the norm for stress to be incorpo-
rated as part of certain routine exams, particularly
those where coronary surveillance is required. For
this to happen, the pioneering centers will need to
work together to produce high-quality data with
adequate validation and outcomes in a greater
number of patients than any single center will
ever be able to study individually.
The only “pure” series to investigate the use of
stress perfusion CMR comes from the group at
Great Ormond Street Hospital in London, UK –
they reported on six patients who underwent stress
perfusion CMR having previously undergone
remote surgical repair of anomalous left coronary
19
enhancement sequences (c, d). Whole-heart navigator
breath-held steady-state free precession coronary sequence
demonstrates aneurysms (+) in the mid and distal circum-
flex coronary artery (e, f). The distal circumflex coronary
artery aneurysm (f) contains a crescentic rim of thrombus
(solid black arrow). Low signal in the wall of the aneurysm
(asterisk) is due to calcification. SoV sinuses of Valsalva,
AA ascending aorta, DA descending thoracic aorta, LA left
atrium, RA right atrium, LAA left atrial appendage
artery to pulmonary artery (ALCAPA) [42]. All
six of these patients were referred because of a
clinical suspicion of ischemia, and three had vis-
ible perfusion defects under adenosine stress –
confirmed at subsequent coronary angiography
where there were two occlusions and one signifi-
cant stenosis of the left main coronary artery.
There are no multicenter reports of using stress
CMR prospectively in these patients.
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 Nomenclature and Classification
of Cardiac Defects
M. J. Béland, R. C. Franklin, V. D. Aiello, L. Houyel,
P. M. Weinberg, and R. H. Anderson
Abstract
For more in-depth research into congenital car-
diac disease, such as for multicentric analysis
of outcomes or stratification of risk for inter-
ventions, there is need for a uniform and
detailed system of nomenclature. The
advances in digital technology and communi-
cation seen over the last quarter century have
M.J. Béland (*)
Division of Pediatric Cardiology, The Montreal Children’s
Hospital of the McGill University Health Centre, Montreal,
QC, Canada
e-mail: marie.j.beland@muhc.mcgill.ca
R.C. Franklin
Paediatric Cardiology Directorate, Royal Brompton &
Harefield NHS Trust, London, UK
e-mail: rfranklin@doctors.org.uk
V.D. Aiello
Laboratory of Pathology, Heart Institute (InCor),
University of Sao Paulo Medical School, Sao Paulo, Brazil
e-mail: anpvera@incor.usp.br
L. Houyel
Hôpital Marie-Lannelongue, Le Plessis Robinson, France
e-mail: l.houyel@ccml.fr
P.M. Weinberg
The Children’s Hospital of Philadelphia and Perelman
School of Medicine at University of Pennsylvania,
Philadelphia, PA, USA
e-mail: weinberg@email.chop.edu
R.H. Anderson
Institute of Genetic Medicine, Newcastle University,
London, UK
e-mail: sejjran@ucl.ac.uk
# Springer-Verlag London 2016
E.M. Da Cruz et al. (eds.), Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care,
DOI 10.1007/978-1-4471-4999-6_251-1
facilitated the task of standardization of entry
of data and exchange of information.
In this chapter, the authors, as members of
the International Society for Nomenclature of
Paediatric and Congenital Heart Disease
(ISNPCHD), review the principles and chal-
lenges of developing a standardized system of
nomenclature for congenital heart disease,
from the point of view of developing the Inter-
national Paediatric and Congenital Cardiac
Code (IPCCC) and the congenital heart list
for the newest iteration of the International
Classification of Diseases of the World Health
Organization (ICD-11). The authors expand
upon certain areas of contention, summarizing
some of the discussions that have taken place
among those seeking to create a standardized
and international system for naming the vari-
ous lesions encountered in patients presenting
with congenital cardiac disease.
Keywords
Cardiac birth defects • Cardiac malformations •
Categorization • Classification • Congenital
heart disease • Heart anomalies • Heart defects •
International nomenclature list • Nomencla-
ture • Nomenclature list • Nomenclature sys-
tem • Nomenclature tree • Standardization •
Standardization of names • Structural cardiac
anomalies
1
2 M.J. Béland et al.

Introduction and History

Contents
Introduction and History . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 It was only in the last century that the study of
The International Paediatric and Congenital Cardiac congenital cardiac malformations began in ear-
Code (IPCCC) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 nest. It was as recently as 1936 that the distin-
The IPCCC and the International Classification guished Canadian physician, Maude Abbott,
of Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 published the Atlas of Congenital Cardiac Disease
Developing the IPCCC and the ICD-11 List [1], which represented the first formal system of
for Congenital Heart Disease: Basic Principles classification for cardiac defects, although von
and Their Application . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 Rokitansky had previously offered an embryolog-
Standardized Nomenclature: The Challenges . . . . . 6 ical classification of septal defects [12]. Subse-
Nomenclature, the Normal Heart, and Conventions
quent to Abbott’s endeavor, in an effort to
Regarding the Naming of Congenitally establish individual hospital-specific databases,
Malformed Hearts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 centers across the world, using a multitude of
Congenital anomaly of Position and Spatial languages, developed or adopted different
Relationship of Thoraco-abdominal Organs schemes for describing and classifying the con-
(03.01.13) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 genitally malformed heart. Unfortunately, these
Anomaly of an Atrioventricular and/or Ventriculo- disparate systems made it impracticable to con-
Arterial Connection (01.03.09) . . . . . . . . . . . . . . . . . . 11 duct detailed inter-institutional and international
Congenital Anomaly of Mediastinal Vein investigations into congenital heart disease. Per-
(04.00.07) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 haps because of this, studies consequently were
Congenital Anomaly of Atriums and/or Atrial mainly published based on data originating from
Septum (05.00.02) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 single centers. While the International Classifica-
Congenital Anomaly of an Atrioventricular Valve
tion of Diseases (ICD), commissioned and then
and/or Atrioventricular Septum (06.00.15) . . . . 16 adopted by the International Statistical Institute in
1893, and now owned by the World Health Orga-
Congenital Anomaly of a Ventricle and/or
Ventricular Septum (07.00.00) . . . . . . . . . . . . . . . . . . 17 nization (WHO), has been used extensively for
the compilation of statistics and reports relating
Functionally Univentricular Heart (01.01.22) . . . . . 18
to the gamut of human diseases, this system has
Congenital Anomaly of a Ventriculo-Arterial Valve not contained enough entries to permit detailed
and/or Adjacent Regions (09.04.29) . . . . . . . . . . . . 18
international study in the field of congenital car-
Congenital Anomaly of the Great Arteries, diac defects. Even the latest versions of the system
Including the Arterial Duct (Ductus Arteriosus) currently in use, known as ICD-9 and ICD-10,
(09.04.28) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
contain only 29 and 73 diagnostic entries, respec-
Congenital Anomaly of the Coronary Arteries tively, for congenital problems afflicting the heart
(09.46.03) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
– an inadequate number for anything but the most
Summary: ICD-11 List of Terms for Congenital superficial of administrative or epidemiological
Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
reports.
Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 For more in-depth research into congenital car-
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 diac disease, such as for multicentric analysis of
outcomes or stratification of risk for interventions,
there is need for a uniform and detailed system of
nomenclature. The advances in digital technology
and communication seen over the last quarter
century have facilitated the task of standardization
of entry of data and exchange of information.
Furthermore, the gradual evolution of the English
language to the position of the lingua franca for
Nomenclature and Classification of Cardiac Defects
scientific discourse has further aided in the pro-
cess of standardization. Recognizing the impor-
tance of having a uniform, and adequately
detailed, system for the nomenclature of congen-
ital cardiac malformations, there have been sev-
eral efforts in the last several decades to establish
broad-based common lists as described using the
English language.
The International Paediatric
and Congenital Cardiac Code (IPCCC)
In 2000, the outcomes were published of two
major initiatives to standardize the classification
and nomenclature for congenital heart disease.
One was the European Pediatric Cardiac Code,
created by the coding committee of the Associa-
tion for European Paediatric and Congenital Car-
diology [5], while the other was the classification
created by the International Congenital Heart Sur-
gery Nomenclature and Database Project on
behalf of the Society for Thoracic Surgeons and
the European Association for Cardiothoracic Sur-
gery [8]. The emphasis within the first was on
detailed diagnosis, while that of the second was
on surgical interventions. In 2002, it was agreed
that a newly established International Working
Group for Mapping and Coding of Nomenclatures
for Paediatric and Congenital Heart Disease
should begin discussions to cross-map and refine
these two systems. The outcome of these deliber-
ations was to create the International Society for
Nomenclature of Paediatric and Congenital Heart
Disease (ISNPCHD). Since 2005, the interna-
tional society has developed, maintained, and
updated the thousands of entries that make up
the International Paediatric and Congenital Car-
diac Code (IPCCC). This list provides names,
together with six-digit codes, for all the currently
recognized phenotypes of congenital cardiac
malformations, along with diagnostic and thera-
peutic procedures, as well as postprocedural com-
plications. Should new phenotypes be discovered
or interventions be developed, then the nomencla-
ture working group of the ISNPCHD is pro-
grammed so as to recognize, classify, and
code them.
3
The IPCCC and the International
Classification of Diseases
In 2008, the ISNPCHD and the WHO entered
upon an agreement to expand the congenital
heart disease section of the latest iteration of the
International Classification of Diseases, ICD-11,
scheduled for publication in 2018. This work in
partnership was meant not only to choose and
arrange the terms to be included in ICD-11 but
also to define these terms and provide synonyms
for them. Thanks to this collaboration, ICD-11
includes more than four times as many terms
related to congenital heart malformations (over
300 entries) compared to ICD-10. The end result
of the entire process is a list that is approved by the
World Health Organization for international use in
ICD-11. It consists of an elaborate subset of the
diagnostic terms that are part of the extensive
lexicon of the IPCCC, accompanied by definitions
for each term, as well as commonly used syno-
nyms and expert commentary on many controver-
sial or ambiguous terms.
Within ICD-11, therefore, the congenital heart
community has a standardized list of names suit-
able for the description of the congenitally mal-
formed heart. The complete list of the
International Classification of Diseases, which
contains additional terms for non-congenital
heart disease, is available on the World Health
Organization ICD website. The complete versions
of the International Paediatric and Congenital
Cardiac Code can be viewed and downloaded at
www.ipccc.net.
In this chapter, the authors, as members of the
ISNPCHD, review the principles and challenges
of developing a standardized system of nomen-
clature for congenital heart disease, from the point
of view of developing the IPCCC and the congen-
ital heart list for ICD-11. The authors describe the
structure of the nomenclature tree to help the user
navigate through its branches, as well as
expanding upon certain areas of contention, sum-
marizing some of the discussions that have taken
place among those seeking to create a standard-
ized and international system for naming the var-
ious lesions encountered in patients presenting
with congenital cardiac disease.
4 M.J. Béland et al.
Developing the IPCCC and the ICD-11
List for Congenital Heart Disease: Basic
Principles and Their Application
Certain guiding principles were used by the
ISNPCHD in developing the IPCCC and the list
of congenital heart diseases for ICD-11 in partner-
ship with the WHO. Ten of these principles are
enumerated below with a brief explanation of how
these were applied by the ISNPCHD:
1. Naming phenotypes: The purpose of any sys-
tem of medical nomenclature should be to
ascribe a “tag,” be it a name, a number, or
series of names or numbers, to all examples
of anatomy, physiology, disease processes, or
interventions related to the subject at hand.
This “tag” should be scientifically accurate
and recognized unambiguously by specialists
in the field. To be accepted and used univer-
sally, the process for selection of names should
have international input from health-care
workers who represent different areas of exper-
tise in congenital heart disease, so that ulti-
mately any given name, or “tag,” will reflect
the same phenotype whether selected by a
morphologist, a congenital heart surgeon, or a
pediatric cardiologist anywhere in the world.
The constitution of the ISNPCHD emphasizes
the importance of international representation
within the society, stipulating that the society
should have a balanced representation from
various fields of expertise in congenital heart
disease.
2. Numerically coding phenotypes: While a
given “tag” or term may be expressed in
English, the term should be accompanied by a
code number to facilitate translation into other
languages. For this purpose, every term found
in the IPCCC is associated with a six-digit
numeric code derived originally, with permis-
sion, from the European Paediatric Cardiac
Code of the Association for European Paediat-
ric and Congenital Cardiology [6]. For exam-
ple, the IPCCC term “interrupted aortic arch”
was given the code “09.29.31”. As this number
can be used internationally to represent the
phenotype, data banks throughout the world
can more easily be created to examine this
entity, no matter the language in which the
data are collected. The IPCCC numeric codes
appear throughout this chapter following all
congenital heart disease terms. The WHO will
be assigning its own alphanumeric “tags” to
ICD-11 terms, and these will be cross-mapped
to the corresponding six-digit numeric codes of
the IPCCC, so that databases can evolve such
that they contain the same data points
internationally.
3. Defining phenotypes: To link accurately a phe-
notype to a term, it follows that any system
used for naming congenital heart lesions
should provide definitions for the terms used,
thus facilitating the accurate selection of the
correct “tag.” Providing definitions for all
terms in the congenital heart disease list of
ICD-11 was part of the mandate that the
ISNPCHD received from the WHO. Thus, def-
initions for each term appear in a separate
column of ICD-11 along with short commen-
tary, as needed. Ultimately, other terms within
the IPCCC (in addition to those included in
ICD-11) will be defined as part of the ongoing
work of the ISNPCHD.
4. Providing synonyms for phenotypes: Syno-
nyms should be provided within a nomencla-
ture list, again to facilitate the accurate
selection of a given “tag” to describe a partic-
ular phenotype. A separate column of syno-
nyms has been included in ICD-11 for all
congenital heart disease terms. For example,
the term “atrioventricular septal defect” is con-
sidered synonymous with “atrioventricular
canal defect,” and both were given the same
IPCCC number 06.06.00. In contrast, the term
“endocardial cushion defect” was considered a
poor synonym by the ISNPCHD ICD-11
development team and is not included in the
final WHO ICD-11 listing, as there is currently
no mechanism to distinguish poor or contro-
versial synonyms from scientifically
acceptable ones.
If different spellings exist for a given entity,
and are widely accepted, these have been included
as synonyms in ICD-11, once again to facilitate
Nomenclature and Classification of Cardiac Defects
data retrieval and coding. This is particularly true
for the fairly common differences in spelling
between American English and British English,
for example, with the term Laevocardia and
Levocardia. These are considered synonyms in
ICD-11, and are given the same IPCCC code
number 02.01.03, and the same WHO number in
ICD-11.
It can be remarked in the previous chapter, and
in this one, that Latin terms have largely been
translated into English in a quest for uniformity
of language within the lexicon. Yet Latin terms are
still in common use in many parts of the world,
notably in North America. If a Latin term is com-
monly used internationally, it has been considered
synonymous with the English term for the pur-
poses of ICD-11. Thus, “Truncus arteriosus” is
equivalent to Common arterial trunk and retains
the number 09.01.01, while “Patent ductus
arteriosus” is synonymous with Patent arterial
duct, with its number continuing to be 09.27.21.
5. Providing abbreviations: While abbreviations
may be listed within the nomenclature system
in order to facilitate quick retrieval of informa-
tion, they should not be used without being
spelled out within the primary “tag.” Next to
each term in ICD-11, there exists a separate
column where commonly used abbreviations
are listed, and abbreviations are not used
within the terms themselves. There are limited
abbreviations in the IPCCC, and when they
appear they always follow the spelled-out ver-
sion of the term.
6. Developing a nomenclature list in tree form:
An ideal standardized system of nomenclature
should permit easy storage and retrieval from
computerized databases and should have the
capacity to be viewed in tree form. The con-
genital heart malformations in ICD-11 are
listed starting with ten all-encompassing
Level 1 terms (Table 1). Each Level 1 term is
then parsed into finer and finer detail as one
travels down the branches of the nomenclature
tree to a maximum of six levels.
In addition, the user should be able to deter-
mine the level of detail to be achieved depending
5
Table 1 Level 1 terms in the congenital heart disease list
for ICD-11
1. Congenital anomaly of position and spatial
relationships of thoraco-abdominal organs
(03.01.13)
2. Anomaly of an atrioventricular and/or ventriculo-
arterial connection (01.03.09)
3. Congenital anomaly of a mediastinal vein
(04.00.07)
4. Congenital anomaly of an atrium and/or atrial
septum (05.00.02)
5. Congenital anomaly of an atrioventricular valve
and/or atrioventricular septum (06.00.15)
6. Congenital anomaly of a ventricle and/or the
ventricular septum (07.00.00)
7. Functionally univentricular heart (01.01.22)
8. Congenital anomaly of a ventriculo-arterial valve
and/or adjacent regions (09.04.29)
9. Congenital anomaly of great arteries, including
arterial duct (09.04.28)
10. Congenital anomaly of coronary arteries
(09.46.03)
on the purpose at hand. Thus, a Level 5 term such
as Trabecular muscular ventricular septal defect:
midseptal (at one of the outermost branches of the
tree) may be coded as such, using its number
07.11.04. If this degree of detail is not needed,
the code for Trabecular muscular ventricular sep-
tal defect, a Level 4 term with the number
07.11.01, or more simply Ventricular septal
defect, a Level 3 term numbered 07.10.00, may
suffice for certain database purposes, such as bill-
ing. If the information is available, nonetheless,
the precision provided in the more specific code
will allow the clinician to classify fine anatomical
detail.
7. Quantitating and qualifying: Quantification or
qualification will enhance the clinical rele-
vance of any system of nomenclature and
therefore should be included within the system.
At times, the severity or size of a lesion is as
important as its anatomical detail. While an
epidemiologist may consider all ventricular
septal defects of a particular type to be equally
significant, the clinician may wish to distin-
guish small from large defects. In many cases,
the designation is arbitrary and difficult to
define, but the addition of a qualifier term
6 M.J. Béland et al.
may be imperative to the clinician. This spe-
cific addition to a term is known as post-
coordination within the ICD-11 development
process. Such terms that exist are in the generic
Extension Code chapter. While ICD-11, there-
fore, has some potential for describing the
severity of lesions for any disease process,
there was no possibility for the ISNPCHD to
suggest specific qualifiers for individual con-
genital heart malformations, where they might
be most relevant. Qualifiers are used more
expansively, in much greater detail, and with
specific linkage, within the IPCCC. The reader
is referred to this list for quantifying or quali-
fying specific congenital heart lesions.
8. Avoiding the use of “other”: Entries with the
word other, such as other types of right ven-
tricular outflow tract obstruction, should not
be used in a nomenclature system, since the use
of the word “other” implies that the user knows
what other conditions have been enumerated in
that specific list. Used in another context, for
instance, within a shortened list from the same
scheme, the term “other” thereby changes
meaning. Following this principle, both the
ICD-11 nomenclature list as submitted to the
WHO by the ISNPCHD for congenital heart
disease and the IPCCC itself have avoided the
use of the word “other.” Coders are instructed
to use higher-order terms if a particular lesion
does not appear on either the full ICD-11 list
(the so-called Foundation Component) or
within the IPCCC. For example, the very
unusual lesion Coronary sinus diverticulum
04.04.15 appears in the IPCCC list but not in
ICD-11. The coder using the full listing of
ICD-11 is not provided with a code for
“Other congenital anomaly of the coronary
sinus.” Instead, the broader Level 3 term Con-
genital anomaly of the coronary sinus 04.04.05
needs to be used when coding for this rare
lesion within ICD-11.
9. Avoiding nondescriptive classification schemes:
Designations such as “type 1” or “class A”
should be avoided, as uniform knowledge of
the basis of the scheme in question would be
necessary to select the correct “tag.” This is
particularly true of entities such as Tricuspid
atresia 06.01.01 where a number of classifica-
tion schemes have been put forward in the last
century and include types, subtypes, and sub-
groups involving designations that are used in
variable ways. These designations do not occur
in the list of congenital heart terms of ICD-11
with the expectation that a root term (Tricuspid
atresia 06.01.01) will be coded independently
of associated lesions such as Transposition of
the great arteries (discordant ventriculo-
arterial connections) 01.05.01, these being
described and coded separately.
10. Avoiding eponyms: Eponyms, such as
“Eisenmenger ventricular septal defect,”
should be used sparingly, since they may
have variable meaning depending on their
use, and not all users may know or agree on
the true definition of a given eponym.
Exceptionally, widely recognized eponymous
terms, such as Tetralogy of Fallot 01.01.01,
appear in ICD-11 as stand-alone terms, but these
are accompanied by definitions and synonyms
that describe the underlying pathology to facilitate
the selection of the correct “tag.”
Other eponymous terms, such as “Taussig-
Bing malformation,” have not been eliminated,
but instead, appear as synonyms for a root term
in ICD-11. Thus, Taussig-Bing malformation has
been listed as a synonym for the term Double
outlet right ventricle with subpulmonary ventric-
ular septal defect (transposition type) 01.01.18.
Where possible, a succinct description of the
anatomical lesion, for example, Left heart
obstruction at multiple sites (including Shone syn-
drome) 01.01.33, has been used in ICD-11, and is
bound to be more universally understood, and
enduring, than the eponym “Shone’s syndrome”
alone.
Standardized Nomenclature: The
Challenges
One of the greatest challenges in developing a
standardized list of names is to reconcile and
integrate the disparate approaches to describing
the phenotypes that have been recognized
Nomenclature and Classification of Cardiac Defects
subsequent to Abbott’s groundbreaking initiative.
This is true in particular for the ways of describing
lesions as developed in North America, as
opposed to Europe. The description of such fea-
tures as intracardiac connections and alignments,
isomerism, double outlet right ventricle, the small
chamber in the setting of double inlet left ventri-
cle, and holes between the ventricles continues to
be debated. The use of synonyms and definitions
within the lexicon, nevertheless, can be effective
in reconciling most of the disparate approaches
incorporated within the one standardized tree.
A second challenge is that, as the knowledge of
embryology and genetics advances, and the
understanding of cardiac defects evolves, the
names will be subject to revision in order to
become more accurate and hopefully to reflect
scientific consensus. No currently existing system
of nomenclature, therefore, can be considered to
represent the final and definitive one, and all sys-
tems will need to be maintained and updated
over time.
A third challenge is that certain words have,
through time and widespread use, become incul-
cated into the lexicon, despite being scientifically
incorrect. For example, “atrial septal defect” has
come to represent any kind of interatrial commu-
nication, irrespective of whether the communica-
tion is across the space normally occupied by the
interatrial septum. The term “sinus venosus atrial
septal defect” remains in widespread use, even
though its diagnostic feature is the presence of a
hole outside the confines of the interatrial septum.
Recognizing this fact, the term Interatrial com-
munication, with the number 05.04.01, has been
adopted as a higher-order term in English to
include all lesions that produce the potential for
shunting between the atrial chambers. The proper
term for Sinus venosus defect, with the number
05.05.00, now falls under the higher order of
Interatrial communication, with the number
05.04.01, and not under “atrial septal defect.”
Another challenge is related to the translation
of a given list of terms and their associated codes
into different languages. It is right and proper that
specialists in different countries will use their own
languages to describe their findings. The words
chosen in one language to translate a particular
7
term from the English language may sound iden-
tical, but may prove not so. One example is Ven-
tricular septal defect, with the number 07.10.00.
This is typically rendered in the Romance lan-
guages by words such as “communication
interventriculaire,” i.e., an “interventricular com-
munication.” “Communication interventriculaire”
has been given the same code as that for “Ventric-
ular septal defect,” namely, 07.10.00. The terms
are very similar and in most cases do indeed
reflect the presence of a hole or breach in the
interventricular septum. The term as used in the
Romance languages, however, describes the pres-
ence of a shunt or communication between the
ventricles. This may not exist when an unequivo-
cal defect of the ventricular septum is shrouded by
tricuspid valvar tissue, such that there is no poten-
tial for shunting across it. Thus, equating “com-
munication interventriculaire” with “ventricular
septal defect” with the use of the code 07.10.00
may give subtly different results depending on the
language of the user.
Lastly, one of the biggest challenges in devel-
oping a new nomenclature list is that it must serve
multiple purposes and must be amenable to being
cross-mapped to already-existing large data bases
using different nomenclature systems such as the
congenital heart surgery databases in North Amer-
ica and Europe. Because individuals from many
backgrounds have been involved in the construc-
tion of the IPCCC and the ICD-11 congenital
heart disease submission to the World Health
Organization from its inception, this challenge
has largely been overcome.
Nomenclature, the Normal Heart,
and Conventions Regarding
the Naming of Congenitally
Malformed Hearts
Prior to describing the lesions found within the
congenitally malformed heart, there needs to be
agreement of the optimal way of describing the
components making up the normal heart. In the
preceding chapter on normal cardiovascular anat-
omy, the names used for this purpose have been
well defined. This knowledge lays the foundation
8 M.J. Béland et al.
for the description and nomenclature of the con-
genitally malformed heart, including three funda-
mental conventions.
First, when cardiac chambers are described, the
qualifiers right and left refer only to the morpho-
logical characteristics of the chambers usually
designated as being right and left [10]. The qual-
ifiers do not account for their position in the tho-
rax. If a spatial frame of reference is required, then
the terms right sided, left sided, anterior, and
posterior are used. When dealing with cardiovas-
cular structures other than cardiac chambers, in
contrast, right and left do refer to the spatial posi-
tion of these structures within the thorax and not
to their morphological counterparts. Thus, the
right superior caval vein refers to the caval vein
on the right side of the body.
The second convention, established by Van
Praagh and his colleagues as the “morphological
method,” states that variable features within the
heart should be defined in terms of their own
intrinsic morphology and not on the basis of
other features that are themselves variable [11].
Third, it has been established since the 1960s
and 1970s that the segmental approach to describ-
ing congenital cardiac abnormalities is fundamen-
tal in imparting the full nature of a cardiac defect,
particularly when the malformation is complex,
and involves multiple cardiac segments. When
using this approach, the analyses and descriptions
of the malformed heart are made in a logical
sequence, permitting the anomalies to be
described with precision, and in unambiguous
fashion. The heart is approached in terms of
three major building blocks: namely, the atriums,
the ventricular mass, and the arterial trunks. There
is limited potential for variation in each segment.
Segmental analysis, therefore, depends upon the
recognition of the topologic arrangement of the
three cardiac segments.
Two systems of classification have evolved
further to describe the malformed heart. The
sequential segmental variant of the system, ema-
nating from the so-called European school,
combines this topological information with the
ways in which the segments are joined, or not
joined, to each other (Fig. 1). To avoid ambiguity,
the system is designed so that each segment can be
described according to how it is linked to the
subsequent one, while fully describing each seg-
ment, and the nature of the junctional connections.
The alternative classification system, emanat-
ing from the so-called Boston School, uses inde-
pendent descriptions of three major segments:
viscero-atrial situs, ventricular loop (see later),
and great arterial situs. Adjacent segments are
related to each other by intersegmental align-
ments, which may not equate to connections. In
order to facilitate a more concise means of com-
municating these variants, the Boston School
established a system of segmental notation, as
detailed in the list below.
Normal cardiac segments {S,D,S} 01.01.70
Segmental nomenclature letter 1 (atrial 01.01.71
situs): A = ambiguous (as in isomerism)
Segmental nomenclature letter 1 (atrial 01.01.72
situs): I = inversus
Segmental nomenclature letter 1 (atrial 01.01.73
situs): S = solitus
Segmental nomenclature letter 1 (atrial 01.01.74
situs): X = unknown or not possible to
determine
Right hand pattern ventricular topology 02.03.01
(D-loop) (segmental nomenclature letter 2:
“D”)
Left hand pattern ventricular topology 02.03.02
(L-loop) (segmental nomenclature letter 2:
“L”)
Ventricular topologic pattern not 02.03.06
determinable (segmental nomenclature letter
2: “X”)
Segmental nomenclature letter 01.01.75
3 (relationship of great arteries in space):
A = aorta directly anterior to pulmonary
artery
Segmental nomenclature letter 01.01.76
3 (relationship of great arteries in space):
D = aorta to the right of the pulmonary
artery
Segmental nomenclature letter 01.01.77
3 (relationship of great arteries in space):
L = aorta to the left of the pulmonary artery
(continued)
Nomenclature and Classification of Cardiac Defects
Fig. 1 The cartoon shows the atrial chambers, the ventric-
ular mass, and the arterial trunks. These are the three
segments emphasized as representing the building blocks
of the congenitally malformed heart in the original concept
Segmental nomenclature letter 01.01.79
3 (relationship of great arteries in space):
S = solitus (normal)
Segmental nomenclature letter 01.01.81
3 (relationship of great arteries in space):
I = inversus (mirror image of normal)
Segmental nomenclature letter 01.01.80
3 (relationship of great arteries in space):
X = unknown or not possible to determine
Classification by segmental notation with corresponding
IPCCC code. Each heart can be described as a three-
member subset of the whole with the first member of the
set representing viscero-atrial situs; the second, ventricular
loop; and the third, great artery situs. Each heart will have a
three-letter notation. Thus, in the cases of normal arrange-
ment of cardiac chambers and vessels, the segmental nota-
tion is {S,D,S} for viscero-atrial situs solitus, ventricular
D-loop, and solitus (normal) relationships of the great
arteries in space. These would also be the segments in
classical tetralogy of Fallot, and the same segmental nota-
tion would apply to classical tricuspid atresia with nor-
mally aligned great arteries. Note therefore that
intersegmental connections are not classified at this stage
and would need to be described separately
These two schools of classification, depending
on strictly segmental analysis, or its sequential
variant, still exist with respect to the way in
which the cardiac segments are described relative
to each other. To set up a tree using segmental
analysis, nonetheless, irrespective of the system
used, a list of terms can be established, starting
from the position and orientation of the heart and
9
of segmental analysis. The subsequent refinements of
sequential analysis place additional emphasis on the fash-
ion in which the segments were joined, or not joined, over
the atrioventricular and ventriculo-arterial junctions
following the flow of blood through the heart in a
sequential manner from the veins to the arteries as
the blood passes through the various segments.
For ICD-11, therefore, the first two sections of
Level 1 of the tree were constructed to permit
description of the cardiac position and the topol-
ogy of the various segments, as well as the union,
or nonunion, of the cavities within them. There
then follow other “first level” entries that delineate
the possible abnormalities within each vein or
artery, segment, or valve in a sequential manner
(Table 1). All of congenital heart disease may be
coded using these ten Level 1 terms. For more
detailed diagnoses, however, the coder is expected
to navigate down the branches of each Level
1 term, to select a more specific description for
each phenotype encountered.
It is worthwhile noting that, by definition,
ICD-11 is a lexicon of disease. The ISNPCHD
chose to include such normal items as
Laevocardia (levocardia) (02.01.03) in recogni-
tion of the fact that laevocardia in the setting, for
instance, of total mirror imagery is an abnormal
finding. The same is true for Usual atrial arrange-
ment (atrial situs solitus) (01.03.00), Concordant
atrioventricular connections (01.04.00), and Con-
cordant ventriculo-arterial connections
(01.05.00), which precede other related anoma-
lies. Within ICD-11, these usually normal findings
10
will be accompanied by a comment describing
“This is a normal finding that should be coded
only in the context of complex heart disease.”
What follows are further notes regarding the
ten Level 1 congenital heart disease sections of
ICD-11. An exhaustive discussion of the contents
of all ten sections, and their subdivisions, is
beyond the scope of this chapter. For the complete
list, with commentary, the reader is referred to the
chapter on structural congenital heart disease in
ICD-11, available on the website of the World
Health Organization.
Congenital anomaly of Position
and Spatial Relationship of Thoraco-
abdominal Organs (03.01.13)
Identification of the Atriums Before identify-
ing the manner in which the atriums are joined, or
not joined, to the underlying ventricles, an accu-
rate means is required to identify the morpholog-
ically right as opposed to the morphologically left
atrium. The most reliable feature of an atrium that
will serve to distinguish the morphologically right
as opposed to the morphologically left features is
the extent of the pectinate muscles relative to the
atrioventricular junctions, as discussed in the pre-
vious chapter on the normal anatomy of the heart.
Thus, upon inspection of the atrial appendages,
whether by echocardiography, magnetic reso-
nance imaging, computed tomography, or directly
during surgery or at autopsy, it is usually possible
to distinguish between morphologically right as
opposed to morphologically left features.
Ventricular Spatial Relationships Even in the
normal heart, the spatial relationships of the inlet,
apical, and outlet components of the ventricles are
complex. Unlike the atrial chambers, which are
almost always side-by-side, the ventricles may be
deviated in anteroposterior or supero-inferior
fashion. Despite these spatial changes, when nor-
mally constituted they will still display one of two
internal spatial organizations or “loops.” These
patterns are best considered as “D” or “L,” or
right-handed or left-handed, enantiomers. Thus,
M.J. Béland et al.
by focusing on the inflow and outflow compo-
nents as assessed from the stance of the septum,
it is possible to attribute chirality, or handedness,
to the ventricular spatial organization. If it is the
right hand that can be placed in the morphologi-
cally right ventricle in such a way that the palm of
the hand lies against the septal surface, with the
thumb in the right ventricular inflow, and the
fingers pointing toward the outflow, then there is
a D-loop arrangement of the ventricles, or right-
handed topology, described in ICD-11 as Right
hand pattern ventricular topology (D-loop)
02.03.01, a third-level term in this first section of
Level 1 terms. If it is the left hand that fits the
morphologically right ventricle in this fashion,
with the thumb in the inlet, the fingers toward
the outlet, and the palm against the septum, the
ventricles are L-looped, with left-handed topol-
ogy, i.e., Left hand pattern ventricular topology
(L-loop) 02.03.02 in ICD-11. Since a right hand
can always be distinguished from a left one, it
follows that D-looped ventricles should not be
mistaken for L-looped ventricles, regardless of
the position of the heart, or the ventricles, in
three-dimensional space. In persons with usually
arranged atriums and discordant atrioventricular
connections, the ventricles are almost always
L-looped, showing a left-handed topological pat-
tern, whereas D-looped ventricles, with a right-
handed topological pattern, are usually found with
the combination of mirror-imaged atriums and
discordant atrioventricular connections.
Heterotaxy Visceral heterotaxy (abnormal arrange-
ment of Thoraco-abdominal organs) (03.01.02) is
further divided into the two most commonly rec-
ognized subsets of Right isomerism (“asplenia
syndrome”) (03.01.04) and Left isomerism
(“polysplenia syndrome”) (03.01.05).
By convention, Visceral heterotaxy has been
defined to exclude patients with totally mirror-
imaged arrangement of the thoracic and abdomi-
nal organs along the left-right axis, even though
this arrangement is heterotaxic in being other than
normal. In the case of Total mirror imagery (Situs
inversus totalis) 03.01.03, the lungs, abdominal
organs, and heart are simply the mirror image of
the usual arrangement. Should there be associated
Nomenclature and Classification of Cardiac Defects
anomalies of the lungs and abdominal organs, this
will be specific to the given organ, rather than
reflecting its mirror-imaged location.
In patients with lateralized arrangements of the
Thoraco-abdominal organs, in other words with
either the usual or mirror-imaged patterns, it is
exceedingly rare to have disharmony between
the locations of the organs. In these settings, there-
fore, the liver is anticipated to be on the same side
as the morphologically right atrium, with the
spleen and stomach on the side of the morpholog-
ically left atrium. In contrast, when the atrial
appendages are isomeric, that is, a heart with
bilateral morphologically left, or bilateral mor-
phologically right, atrial appendages, then almost
always the abdominal organs are jumbled
up. Most, but not all, patients with isomeric
appendages will either lack a spleen or have mul-
tiple spleens. In circumstances where the arrange-
ment is unusual, and there is obvious disharmony
between the arrangement of the thoracic and
abdominal structures, this can be dealt with by
coding as much as is known about the precise
location of the individual organs, after coding
the higher-level term Visceral heterotaxy (abnor-
mal arrangement of Thoraco-abdominal organs)
(03.01.02).
Anomaly of an Atrioventricular and/or
Ventriculo-Arterial Connection
(01.03.09)
Congenital anomalies of cardiac connections are
those in which the atrial chambers do not make
union with the ventricular mass nor the arterial
trunks arise from the ventricular mass, in the fash-
ion anticipated for the normal heart. With respect
to the atrioventricular junctions, there may be
either biventricular or univentricular atrioventric-
ular connection(s). As the latter is invariably asso-
ciated with a functionally univentricular heart
(either double inlet or an absent atrioventricular
connection), for the purposes of ICD-11, these
have been grouped together within Section 7 of
Level 1 terms, “Functionally Univentricular Heart
(01.01.22),” and thus are not listed in section
11
“Anomaly of an Atrioventricular and/or’
Ventriculo-Arterial Connection (01.03.09).”
Discordant Atrioventricular Connections
(01.04.01) By definition, this arrangement exists
when the right and left atriums are joined in mor-
phologically inappropriate fashion to the underly-
ing ventricles. Such discordant atrioventricular
arrangements can be found in the settings of either
a usual or mirror-imaged atrial arrangement.
When the atrial appendages are mirror imaged in
patients with discordant atrioventricular connec-
tions, the ventricular mass typically shows right-
handed topology or “D-looping.” When there are
isomeric atrial appendages, it is impossible for
there to be either concordant or discordant atrio-
ventricular connections. Instead, the union across
the atrioventricular junctions is biventricular and
mixed. Full description, as is available in the
IPCCC, then requires specification of the type of
isomerism and the ventricular topology present. It
may also require a full description of the veno-
atrial connections, since some patterns of venous
return may give the false impression of usual or
mirror-imaged atrial arrangement.
Congenitally Corrected Transposition (Discor-
dant Atrioventricular and Ventriculo-Arterial
Connections) (01.01.03) Congenitally corrected
transposition was given in its own code and
included at this level, despite the fact that the
malformation consists of a combination of anom-
alies of cardiac connection. This was done
because of its widely recognized nature as a
unique form of congenital heart disease and one
that is known to be associated with other prob-
lems. These include coexisting ventricular septal
defects, obstruction of the morphologically left
ventricular outflow tract, anomalies of the mor-
phologically tricuspid valve, and anomalies of
atrioventricular conduction.
Transposition of the Great Arteries (Discor-
dant Ventriculo-Arterial Connections)
(01.05.01) The ventriculo-arterial connections
are discordant whenever the aorta arises from the
morphologically right ventricle, or its rudiment,
12
and the pulmonary trunk arises from the morpho-
logically left ventricle or its rudiment.
Further to classify the entry Transposition of
the great arteries in the setting of concordant
atrioventricular connections, three combination
terms, or “molecules,” are exceptionally included
in the ICD-11 list, because of the implications for
risk stratification. Some “molecules” have been
given a single numeric code, whereas others may
be represented by as many individual codes as
there are “atoms” in each entry:
• Transposition of the great arteries (concordant
atrioventricular and discordant ventriculo-
arterial connections) and intact interventricular
septum (01.01.02)
• Transposition of the great arteries (discordant
ventriculo-arterial connections) with concor-
dant atrioventricular connections and ventricu-
lar septal defect (01.01.10)
• Transposition of the great arteries (discordant
ventriculo-arterial connections) with concor-
dant atrioventricular connections, ventricular
septal defect, and left ventricular outflow
obstruction (01.01.10 + 07.09.01)
Concordant Ventriculo-Arterial Connections
with Parallel Great Arteries (Anatomically
Corrected Malposition) (01.05.10) Concordant
ventriculo-arterial connections with parallel great
arteries, also known as “anatomically corrected
malposition,” is a rare lesion with two salient
features, namely, a left ventricular infundibulum
and intrapericardial arterial trunks that arise from
morphologically appropriate ventricles and
extend into the mediastinum in parallel rather
than spiraling fashion. It was included in this
section because of the unusual connection of the
left ventricle with the aorta, with the resultant
abnormal disposition of the great arteries.
Double Outlet Right Ventricle (01.01.04) Dou-
ble outlet right ventricle is found when both arte-
rial roots arise in their entirety, or predominantly,
from the morphologically right ventricle. Since
the designation “predominantly” is rather arbi-
trary, different rules for assigning great arteries
to ventricles have evolved over time. Some
M.J. Béland et al.
controversy still exists, therefore, as to the criteria
necessary to make the diagnosis of “double outlet
right ventricle.”
One school argues that overriding arterial
valves, from the stance of their ventricular origin,
be assigned to the ventricle supporting the greater
parts or more than 50%, of their circumference.
Another school puts forward that, because of
the natural aortic override of the curved portion of
the interventricular septum in the normal heart,
irrespective of the fact that the normal aorta, of
necessity, is supported exclusively within the left
ventricle, the 50% rule would only hold in the
absence of fibrous continuity between the aortic
and mitral valves. In the presence of aorto-mitral
continuity, the aorta would be assigned to the left
ventricle no matter how much it overrides the
interventricular septum. This same school holds
that, in contrast, for the case of pulmonary to
mitral valve continuity, the 50% rule should be
used to assign the pulmonary artery to a ventricle,
since in the normal heart the pulmonary valve sits
entirely over the right ventricular cavity and no
natural pulmonary valvar “override” of the
interventricular septum occurs.
The relationship of the great vessels predomi-
nantly to the right ventricle notwithstanding, some
would insist that double outlet right ventricle
should only be diagnosed in the presence of bilat-
eral infundibulums. It is a fact, nonetheless, that
such bilateral infundibulums can also be found
when the ventriculo-arterial connections are con-
cordant or discordant, while both arterial trunks
can arise exclusively from the right ventricle in the
presence of arterial-to-atrioventricular valvar
fibrous continuity. It is a consideration of cases
such as this that demonstrates the importance of
the “morphological method,” wherein variable
cardiac features should be defined in terms of
their intrinsic morphology, precluding other fea-
tures that are themselves variable.
Irrespective of how it is defined, once the diag-
nosis of double outlet right ventricle has been
made, it has traditionally been subclassified
according to the relationship of the hole between
the ventricles to the most proximate great artery.
The hole can be positioned in subpulmonary, sub-
aortic, doubly committed, or noncommitted
Nomenclature and Classification of Cardiac Defects
Fig. 2 The images show, to the left hand, the right ven-
tricular outlets in the setting of double outlet right ventricle
and, to the right hand, a comparable image of tetralogy of
Fallot. In double outlet right ventricle, the hole between the
ventricles (red dotted line) is the outlet for the left ventricle.
The yellow dotted line shows the plane of deficient ven-
tricular septation. It is the line shown by red that is usually
described as the ventricular septal defect. To the right hand,
locations. Attention has recently been drawn to
the distinction between the overlapping concepts
of “ventricular septal defect” and “interventricular
communication” in the setting of double outlet
right ventricle [2]. It is the exit from the left
ventricle that provides the interventricular com-
munication (Fig. 2a). This hole, however, does not
represent the defect in the ventricular septum as
usually defined, for example, in the setting of
tetralogy of Fallot. In the latter situation, it is the
cranial continuation of the plane of the apical
muscular ventricular septum that represents
the true plane of interventricular separation
(Fig. 2b). To be accurate in describing the lesion,
therefore, it may be necessary to distinguish
between an interventricular communication and
a ventricular septal defect (Fig. 3). This, of course,
is in contrast to the setting of a typical “isolated”
ventricular septal defect without evidence of sep-
tal malalignment, when the two terms are in gen-
eral synonymous. Surgeons have indirectly
positioned themselves in the debate by describing
operations to repair patients with holes between
13
the yellow dotted line shows the plane of deficient ventric-
ular septation. In tetralogy, however, it is this plane that is
usually described as the ventricular septal defect. It is
different from the plane labeled as such in double outlet
right ventricle. In the right hand panel, the green dots show
the plane of interventricular separation, which is the cranial
continuation of the long axis of the muscular apical ven-
tricular septum (see Fig. 3)
the ventricles in two ways, depending on the
lesion. Thus, the surgeon may simply describe
closure a ventricular septal defect with a patch.
Alternatively, the surgeon may have considered it
necessary to create a tunnel between the left ven-
tricle and an arterial root. Depending on the option
chosen, the surgeon will either have closed a
ventricular septal defect or rerouted an
interventricular communication.
For the purposes of ICD-11, four main sub-
types of “double outlet right ventricle” have
been retained. Following the discussion above
pertaining to the communication between the
two ventricles in double outlet right ventricle,
and knowing that there is not, as of yet, universal
agreement of this line of reasoning, additional
synonyms for each of the subtypes have been
submitted, while retaining the same numerical
code to ensure that the various phenotypes are
identified and coded accurately:
Double outlet right ventricle with subaortic or
doubly committed ventricular septal defect
14
Fig. 3 The cartoon shows the planes that exist with the
cone of space subtended between the leaflets of an over-
riding arterial valve, such as the aortic valve in tetralogy of
Fallot, and the crest of the apical muscular ventricular
septum. The double-headed green arrow is the plane of
interventricular separation, the geometric interventricular
communication. The yellow double-headed arrow shows
the plane of deficient ventricular septation when the mus-
cular outlet septum is deviated so as to be contained within
the right ventricle. This is the plane usually described as the
ventricular septal defect in the setting of tetralogy of Fallot
(see right hand panel of Fig. 2). The red double-headed
and pulmonary stenosis (Fallot type) or Dou-
ble outlet right ventricle with subaortic or dou-
bly committed interventricular communication
and pulmonary stenosis (Fallot type)
(01.01.17)
Double outlet right ventricle with subpulmonary
ventricular septal defect (transposition type)
or Double outlet right ventricle with sub-
pulmonary interventricular communication
(transposition type) (01.01.18)
Double outlet right ventricle with noncommitted
ventricular septal defect or Double outlet right
ventricle with noncommitted interventricular
communication (01.01.19)
M.J. Béland et al.
arrow is the outlet from the left ventricle. This is the plane
of interventricular separation in double outlet right ventri-
cle and hence the interventricular communication (see left
hand panel of Fig. 2). In double outlet right ventricle,
however, the hole is usually described as the ventricular
septal defect. It is different from the hole described in this
fashion in the setting of tetralogy of Fallot. Note that the
same planes would also be apparent in the presence of an
overriding pulmonary trunk in the setting of the spectrum
of transposition of the great arteries with a ventricular
septal defect and double outlet right ventricle with a sub-
pulmonary “ventricular septal defect.”
Double outlet right ventricle with subaortic or
doubly committed ventricular septal defect
without pulmonary stenosis (ventricular septal
defect type) or Double outlet right ventricle
with subaortic or doubly committed
interventricular communication without pul-
monary stenosis (ventricular septal defect
type) (01.01.40)
An additional code, Double outlet right ventri-
cle with intact ventricular septum (01.01.24) was
also included in ICD-11, such as may be found in
the setting of mitral atresia or rarely with
biventricular atrioventricular connections.
Nomenclature and Classification of Cardiac Defects
Common Arterial Trunk (Truncus Arteriosus)
(09.01.01) Common arterial trunk is a congenital
cardiovascular malformation in which a solitary
arterial trunk arises from the heart, giving origin
sequentially to the coronary arteries, one or both
pulmonary arteries, and part or all of the systemic
arterial circulation. Hearts with common arterial
trunks were formerly classified into types I
through IV, depending on the origin of the pulmo-
nary arteries. In ICD-11, the malformation is clas-
sified as to whether the aortic or pulmonary
portion of the trunk dominates, recognizing also
that, rarely, there can be a balanced arrangement
of the aortic and pulmonary components, which
would default to the higher-level term of Common
arterial trunk (09.01.01). The nomenclature that
was chosen is more descriptive, aiming to remove
ambiguity and avoid confusion. In addition, attri-
butes of the truncal valve were coded in this
section:
Common arterial trunk (truncus arteriosus) with
aortic dominance (no aortic arch obstruction)
(09.01.15):
• Common arterial trunk (truncus arteriosus)
with aortic dominance and both pulmonary
arteries from trunk (09.01.14)
• Common arterial trunk (truncus arteriosus)
with aortic dominance and one pulmonary
artery absent from trunk (isolated pulmonary
artery)(09.01.11)
Common arterial trunk (truncus arteriosus) with
pulmonary dominance and aortic arch obstruc-
tion (09.01.12):
• Common arterial trunk (truncus arteriosus)
with pulmonary dominance and interrupted
aortic arch (09.01.18)
• Common arterial trunk (truncus arteriosus)
with pulmonary dominance and aortic coarcta-
tion (09.01.19)
Congenital truncal valvar regurgitation (09.02.19)
Congenital truncal valvar stenosis (09.02.18)
Dysplasia of truncal valve (09.02.01)
15
Congenital Anomaly of Mediastinal
Vein (04.00.07)
Systemic Venous Abnormalities Congenital
anomalies of the mediastinal veins include those
involving the systemic and pulmonary venous
circulations. On the systemic side, these were
divided into those affecting the superior caval
vein, the inferior caval vein, and the coronary
sinus. The descriptors for the caval venous
malformations are relatively straightforward.
Pulmonary Venous Abnormalities As far as the
pulmonary venous anomalies are concerned, the
international committee has discussed the use of
the adverbs “totally” and “partially,” as opposed
to the adjectives “total” and “partial,” when
accounting for the types of anomalous pulmonary
venous connections. Grammar dictates use of the
adverb, but the debate has yet to be resolved, and
both versions are considered synonymous in
ICD-11.
Scimitar Versus Scimitar Syndrome The word
“Scimitar” was retained, with the understanding
that the definitions and distinction between Par-
tial anomalous pulmonary venous connection:
Scimitar type (01.01.16) and Scimitar syndrome
(03.02.23) are well known and difficult to
describe succinctly. The partially anomalous pul-
monary venous connection associated with the
scimitar finding consists of a congenital cardio-
vascular malformation in which some of the pul-
monary veins, usually the right pulmonary veins,
connect anomalously to the inferior caval vein, or
to the right atrium at its junction with the inferior
caval vein. The Scimitar syndrome is diagnosed
when the congenital cardiopulmonary malforma-
tion coexists with other lesions, such as hypopla-
sia of the right lung with bronchial anomalies, a
right-sided heart, hypoplasia of the right pulmo-
nary artery, and anomalous systemic arterial sup-
ply to the lower lobe of the right lung directly
from the aorta or its main branches.
16
Congenital Anomaly of Atriums and/or refer to this anomaly as “juxtaposition of a mor-
Atrial Septum (05.00.02) phologically right, or left, atrial appendage,” since
Interatrial Communications As has already
been emphasized, not all interatrial communica-
tions occur through the area that, in the normal
heart, is formed by the atrial septum. Properly
speaking, an “atrial septal defect” would be a
hole in the area occupied by the atrial septal struc-
tures, which include the floor of the oval fossa and
its muscular anteroinferior rim. Such true atrial
septal defects are more commonly referred to as
“secundum defects.” In this respect, they should
properly be described as ostium secundum
defects, since the part of the septum that is defi-
cient, the flap valve, is derived from the primary
atrial septum. To remove all traces of ambiguity,
this entity is better described as an Atrial septal
defect within oval fossa (secundum atrial septal
defect) (05.04.02). There are, of course, other
communications that permit interatrial shunting.
Five are included in Level 4 of this part of the list,
under the title (or Level 3 term) Interatrial com-
munication. Patent oval foramen (patent foramen
ovale) (05.03.01) is listed here as an interatrial
communication, even though there is normally
only the potential for shunting through the fora-
men. The channel may be closed with a trans-
catheter device when implicated as a causal
mechanism for right-to-left shunting in the setting
of an embolic cardiovascular accident or stroke.
The so-called “primum defects” (Partial atrioven-
tricular septal defect with isolated atrial compo-
nent and Common atrium with common
atrioventricular junction) have as their pheno-
typic feature a common atrioventricular junction.
These lesions, therefore, are included in the next
section “Congenital Anomaly of an Atrioventric-
ular Valve and/or Atrioventricular Septum
(06.00.15).”
Right or Left Juxtaposition of the Atrial
Appendages Juxtaposition of the atrial append-
ages refers to that condition in which both atrial
appendages, or one appendage and part of the
other, lie beside each other, and to one or other
side of the arterial pedicle [3]. It is incorrect to
M.J. Béland et al.
the word juxtaposition refers to the location of the
two appendages relative to the arterial pedicle and
not the location of the specific appendage. Thus,
ICD-11 contains the entries: Left-sided juxtaposi-
tion of the atrial appendages 05.01.06 and Right-
sided juxtaposition of the atrial appendages
05.02.04.
Supravalvar or Intravalvar Mitral Ring
(05.02.02) While supravalvar mitral rings could
have been coded in the section on anomalies of the
left atrium, in ICD-11 it is found in the next
section dealing with atrioventricular valves.
Congenital Anomaly of an
Atrioventricular Valve and/or
Atrioventricular Septum (06.00.15)
This section is divided in two parts: the first
involving hearts having two atrioventricular
valves and the second those with a common atrio-
ventricular junction. Defined as a defect of the
atrioventricular component of the membranous
septum, the term Communication between left
ventricle and right atrium (Gerbode defect)
07.14.02 appears in this section as well and not
in the section on ventricular septal defects.
In the classification of mitral valvar anomalies,
the entry True cleft of anterior mitral leaflet (with-
out common atrioventricular junction) 06.02.36
refers to the presence of a split within one of the
leaflets of the morphologically mitral valve, usu-
ally the anterior or aortic one, with the cleft usu-
ally dividing the leaflet in two. Such clefting can
occur in otherwise normal hearts or in hearts that
are themselves malformed by additional septal
defects or abnormal connections. In morphologi-
cal terms, however, it is incorrect to consider the
space between the left ventricular components of
a common atrioventricular valve as representing a
“cleft mitral valve.” The space seen when there is
a common atrioventricular junction is the zone of
apposition between the left ventricular compo-
nents of the leaflets that bridge the ventricular
septum, with the left half of the common valve
Nomenclature and Classification of Cardiac Defects
having no resemblance to the episcopal miter,
even in the so-called partial variants characterized
by an isolated ostium primum defect. When seen
echocardiographically, the two entities are mark-
edly different. The cleft of the anterior leaflet of an
otherwise normal mitral valve points into the left
ventricular outflow tract or toward the sub-
pulmonary interventricular communication if
associated with double outlet right ventricle. The
zone of apposition between the left ventricular
components of the bridging leaflet of a common
atrioventricular valve points toward the nadir of
the scooped-out ventricular septum [9].
Common Atrioventricular Junction (Common
Atrioventricular Canal) (06.06.11) Atrioven-
tricular septal defects have long been classified
into “complete,” “partial,” and “intermediate”/
“transitional” without a commonly agreed-upon
definition for each. In ICD-11, the descriptors
used for each item were purposefully detailed to
make the terms as unambiguous as possible. Thus,
what is known to some as a “Partial atrioventric-
ular septal defect” is described in ICD-11 as Atrio-
ventricular septal defect with communication at
the atrial level only 06.06.01. This indicates that
the lesion includes all the components typically
associated with an atrioventricular septal defect in
the setting of a common atrioventricular junction
except for shunting through the defect at the ven-
tricular level. This does not exclude the possibility
of having an interventricular communication at
other levels, such as through a ventricular septal
defect in the trabecular muscular portion of the
septum. Such a muscular ventricular septal defect,
along with other lesions outside of the atrioven-
tricular septal defect, if present, would need to be
coded separately.
Atrioventricular Valve Atresia Atresia of the
atrioventricular valves is not included in this sec-
tion. This is because the lesion is most frequently
produced by the absence of either the right- or left-
sided atrioventricular connection. Even if the atre-
sia is the consequence of an imperforate valvar
orifice, the result is to produce a functionally
univentricular heart. All of these latter lesions,
therefore, are grouped together with those
17
characterized by double inlet ventricle in the sec-
tion devoted to the section “Functionally
Univentricular Heart (01.01.22),” below.
Congenital Anomaly of a Ventricle
and/or Ventricular Septum (07.00.00)
Tetralogy of Fallot 01.01.01 and congenital
obstruction of the right and left ventricular out-
flow tracts are listed here, whereas Double outlet
right ventricle is to be found in the section
“Anomaly of an Atrioventricular and/or
Ventriculo-Arterial Connection (01.03.09),” even
though by some definitions both arterial trunks
can arise exclusively from the right ventricle in
the setting of tetralogy. Hearts with subpulmonary
and subaortic stenosis are listed in the section
“Congenital Anomaly of a Ventriculo-Arterial
Valve and/or Adjacent Regions (09.04.29).”
Ventricular Septal Defect (07.10.00) The defi-
nition, nomenclature, and classification of holes
between the ventricles, also known as ventricular
septal defects and/or interventricular communica-
tions, have been a source of much debate since the
1980s and continue to be debated. Most have
defined such holes from the perspective of the
right ventricle. This has been achieved by divid-
ing the right ventricular aspect of the ventricular
septum into regions, describing holes within these
regions as subtypes of the lesions providing the
potential for interventricular shunting, while not-
ing key landmarks such as the location of the
tricuspid and arterial valves. Two systems for
classification have dominated this debate. In the
approach that concentrates on the phenotypic var-
iation, emanating mostly from Europe, the defects
are primarily described with respect to the bound-
aries or margins of the defect. Distinction is made
between those abutting the area of fibrous conti-
nuity between the atrioventricular and arterial
valves, so-called perimembranous defects, those
roofed by the arterial valves when in fibrous con-
tinuity to each other, and described as being sub-
or juxta-arterial, and those entirely bounded by the
muscular components of the septum or muscular
defects. The defects are then further classified
18
according to their position in relation to the com-
ponents of the right ventricle, in other words
whether they open to the inlet, apical trabecular
(apical), or outlet parts of the right ventricle. A
further descriptor is then used if there is additional
malalignment between the septal components.
The alternative so-called “geographical”
approach, emanating originally from Boston, pri-
marily classifies the defects according to their
location within the septum, particularly noting
the key landmarks of the “Y”-shaped septal
band, the infundibular and muscular septums,
and the tricuspid valvar annulus. In the system,
there are five subtypes, namely, the
conoventricular, conal septal malalignment, inlet
or atrioventricular canal type, conal septal hypo-
plasia, and muscular defects.
The two approaches have different frames of
reference, and there are, therefore, only a limited
number of exact synonyms for the same morpho-
logical phenotype. It is not within the scope of this
chapter to resolve these debates definitively. The
ICD-11 classification of ventricular septal defects
attempts to provide definitions and sufficient syn-
onyms to permit the choice of a specific code for a
given phenotype, regardless of which scheme is
being used.
Of note, the inlet component of an atrioventric-
ular septal defect is purposefully excluded from
this section, since as already discussed, it is listed
within the classification offered for atrioventricu-
lar septal defects, the section “Congenital Anom-
aly of an Atrioventricular Valve and/or
Atrioventricular Septum (06.00.15).” The combi-
nation term Atrioventricular septal defect and
tetralogy of Fallot (01.01.20) and the term Com-
munication between left ventricle and right atrium
(Gerbode defect)(07.14.02) are also listed in sec-
tion “Congenital Anomaly of an Atrioventricular
Valve and/or Atrioventricular Septum (06.00.15)”
and not in this section.
Due to its frequency in clinical practice, a
single physiological category has also been
added to the list of congenital anomalies of the
ventricular septum, namely, that of the hemody-
namically insignificant ventricular septal defect,
Ventricular septal defect: hemodynamically insig-
nificant (07.15.02).
M.J. Béland et al.
For describing the interventricular communi-
cations that define the different types of double
outlet right ventricle, the reader is referred to the
section “Anomaly of an Atrioventricular and/or
Ventriculo-Arterial Connection (01.03.09).”
Functionally Univentricular Heart
(01.01.22)
The term “functionally univentricular heart”
describes a spectrum of congenital cardiovascular
malformations in which the ventricular mass may
not readily lend itself to partitioning in a way that
commits one ventricular pump to the systemic
circulation and the other to the pulmonary circu-
lation. Common lesions in this category include
double inlet ventricle, atrioventricular valvar atre-
sia, and the hypoplastic left heart syndrome.
Although widely used, the term “single ventricle”
should be avoided and is not used in the IPCCC or
in ICD-11. It is a misnomer, since in most exam-
ples rightly coded as functionally univentricular
hearts, there is a hypoplastic or incomplete second
ventricle present. Hearts with a truly solitary ven-
tricle do exist. In these lesions, which are exceed-
ingly rare, the solitary chamber has indeterminate
apical trabeculations and should be designated:
Double inlet to solitary ventricle of indeterminate
morphology 01.04.05.
Congenital Anomaly of a Ventriculo-
Arterial Valve and/or Adjacent Regions
(09.04.29)
Upon inspection of this section of the list, it will
not go unnoticed that, when describing the aortic
and pulmonary valves, the term “annulus”
appears with quotation marks. This is because,
unlike the atrioventricular valves, the leaflets of
the arterial valves are hinged in semilunar rather
than circular fashion. The plane of space usually
described by echocardiographers as the “annulus”
has no anatomic counterpart. Rather, it is the
virtual plane created by placing lines between
the most proximal, or caudal, points of attachment
of the valvar leaflets. There is a more obvious true
Nomenclature and Classification of Cardiac Defects
ring found between the distal, or cranial, attach-
ments of the valvar leaflets and the commence-
ment of the tubular components of the arterial
trunks. This is the sinotubular junction, which is
an integral part of the arterial valvar mechanism.
The so-called “supravalvar” obstruction typically
involves this junction.
Note is made that the truncal valve, although
an arterial valve and a candidate for inclusion in
this section, falls under Common arterial trunk
(truncus arteriosus) 09.01.01 that is found in the
section “Anomaly of an Atrioventricular and/or
Ventriculo-Arterial Connection (01.03.09).”
Congenital Anomaly of the Great
Arteries, Including the Arterial Duct
(Ductus Arteriosus) (09.04.28)
Various names used in this section have the poten-
tial to create ongoing discussions. The pulmonary
trunk is the name favored by anatomists, and the
one recommended in the “Terminologia
anatomica,” for the channel often described by
pediatric cardiologists as the “main pulmonary
artery.” There are further advantages to be gained
when describing the pulmonary trunk, since usage
in this fashion permits its branches to be named as
the right and left pulmonary arteries, avoiding
additional tautologous use of “branch,” as in
“right and left branch pulmonary arteries.”
The term “hemitruncus” has not been included
in the lexicon. The appropriate term for this entity
is anomalous aortic origin of the right or left
pulmonary artery.
In this section of ICD-11, there is a relatively
short list of lesions included under the overall
heading of the tracheoesophageal compression
syndrome. Also known as vascular rings and
slings, there are multiple variations that produce
such compression, but all are well understood on
the basis of the hypothetical double aortic arch as
initially described by Edwards and his colleagues
[4]. These are more fully enumerated in the
IPCCC.
19
Congenital Anomaly of the Coronary
Arteries (09.46.03)
The list of coronary arterial anomalies in ICD-11
is designed to cater for the arterial trunks as found
in the otherwise normal heart. Note that, from the
anatomical viewpoint, the coronary artery usually
called the “left anterior descending artery” is more
correctly described as the “anterior
interventricular artery.” Both terms, therefore,
have been entered into ICD-11 as synonyms.
The authors have continued to use the term “pul-
monary trunk” as a synonym for “main pulmo-
nary artery,” so that the suggested acronym for the
Bland-Garland-White syndrome becomes
ALCAPT, as opposed to the more frequently
quoted ALCAPA. Again, both synonyms are
acceptable alternatives, having the same interna-
tional code. Several of the lesions nominated
above account for abnormal sinusal origin of one
of the coronary arteries in hearts with concordant
ventriculo-arterial connections.
Diverse sinusal origin, of course, is well rec-
ognized in the setting of transposition or double
outlet right ventricle with subpulmonary
interventricular communication. A detailed
description of the variations in coronary arterial
origins is important for the surgeon preparing to
perform the arterial switch procedure. The key in
making these descriptions is to distinguish
between the two aortic sinuses that are adjacent
to the pulmonary trunk and which usually give
rise to the coronary arteries. It is exceedingly rare
for a coronary artery to arise from the aortic sinus
that is not adjacent to the pulmonary trunk, in
which case the higher-level term would therefore
be used for coding purposes. Thus, one can read-
ily identify and label the two facing sinuses of the
aorta as left and right facing or anterior and pos-
terior facing. Another method to identify the aor-
tic sinuses in transposition uses what is known
historically as the Leiden Convention [7]. This
method locates the two adjacent aortic sinuses
and distinguishes them from the stance of a hypo-
thetical observer standing in the nonadjacent sinus
of the aorta and looking toward the pulmonary
trunk. One of the sinuses will be to his or her right
hand. This is now known as sinus number 1. The
20
other sinus will be to the left hand and is known as
sinus number 2. The disadvantage of using the
Leiden nomenclature system, however, is that
the coder needs to be aware of the details of the
convention. As mentioned earlier, when
discussing the principles of developing nomencla-
ture lists, nondescriptive “tags” that use numerical
notations within a term are to be avoided. A
detailed and descriptive classification of coronary
artery origins in abnormal ventriculo-arterial con-
nections is available in the IPCCC but not in
ICD-11.
Summary: ICD-11 List of Terms
for Congenital Heart Disease
In ICD-11, hundreds of terms have been compiled
to name the phenotypes that represent congenital
heart disease, with the terms then listed in tree
form, following a sequential segmental approach.
For ease of identification, the coder is provided, as
appropriate, with definitions, synonyms, alternate
spellings, abbreviations, and commentary for
each term. As of 2018, the list is scheduled to be
available free of charge on the website of the
World Health Organization in the section reserved
for ICD-11. There will also be an available listing
of acquired abnormalities of the heart that relate to
congenital heart malformations, such as post-
procedural complications and endocarditis.
Conclusion
The provision of the list of over 300 terms for
description of structural congenital heart disease,
incorporated within the eleventh iteration of the
International Classification of Disease (ICD-11),
will hopefully produce a system that provides
sufficient specificity for clinicians and surgeons
properly to code the myriad lesions encountered
in their patients with congenitally malformed
hearts. The rapidly emerging evidence regarding
the steps involved in normal and abnormal
M.J. Béland et al.
development of the heart is now permitting more
precise correlations to be made with regard to
morphogenesis. These, in turn, are providing
greater insights into the structure of some lesions
that remain controversial. As has been empha-
sized in the initial sections of this chapter, no
system can be considered to be graven in stone,
and provisions have been made to enable ongoing
modifications to the list to take place as needed.
The diagnostic nomenclature that has been incor-
porated into the eleventh iteration of the Interna-
tional Classification of Diseases (ICD-11),
nonetheless, represents a significant step in the
ultimate goal to create a universally acceptable
and available system for naming the lesions
found when the heart is congenitally malformed.
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