Atrial Septal Defect 145

terior endocardial cushions with the septum
BASIC INFORMATION
DEFINITION
An atrial septal defect (ASD) is a true deficiency
in the interatrial septum that allows blood flow
between the atria. It should be distinguished
from patent foramen ovale (PFO), which is a is
a probe-patent defect caused by a failure of the
septum primum to fuse to the superior limb of the
septum secundum at the edge of the fossa ovalis
in postnatal life, leaving a flaplike communication
connected to the left atrium but is deficient
primum, with resultant deficiency in the infe-
rior portion of the septum primum. The defect
frequently coexists with abnormalities of the
atrioventricular valves, commonly resulting in
a cleft anterior mitral leaflet.
Secundum: The most common form of ASD;
it represents a true deficiency in the septum
primum or a septum secundum, or both. This
defect most often occurs in the region of the
fossa ovalis.
Sinus venosus defect: This defect is located
at the junction of the right atrium and either
anteriorly and thus drains anomalously into
the right atrium. Less commonly, the right A
lower pulmonary vein is involved.
Coronary sinus septal defect (unroofed coro-
nary sinus): This defect results when the wall
separating the coronary sinus from the left
atrium is deficient, causing a left-to-right
shunt. This defect is often associated with a
persistent left superior vena cava.
SYNONYMS
ASD

and Disorders
Diseases
between the two atria. PFO occurs in approxi- the superior vena cava or inferior vena cava. Interatrial septal defect
mately 20%-25% of the normal adult population. In a sinus venosus defect, the wall separating
Fig. 1A-146 illustrates the physiology of ASD. the pulmonary veins and the right atrium is ICD-10CM CODES
There are several forms of ASD (Fig. 1A-147): deficient, causing a left-to-right shunt. Most Q21.1Atrial septal defect
Primum: This type of ASD occurs when there commonly this defect involves the right upper I23.1Atrial septal defect as current
is failure of normal fusion of anterior and pos- pulmonary vein, which is still anatomically complication following acute
myocardial infarction I
EPIDEMIOLOGY &
100
DEMOGRAPHICS
Secundum, 75%; primum, 15%-20%; sinus
venosus, 5%-10%; coronary sinus, <1%
Incidence is greater in females and in
3
85 patients with Down syndrome
Accounts for 8% to 10% of congenital heart
70
6 abnormalities
6 Prevalence is 1.6 per 1000 live births
3 Holt-Oram syndrome is an autosomal domi-
3
nant disorder that involves skeletal anoma-
3 lies, such as absent radial bones in both
80
100 arms, as well as ASD and cardiac conduc-
6 tion disease, such as AV blocks. Association
85 with other genetic syndromes (e.g., Down
70 syndrome and Noonan syndrome) has been
described.
ASDs may occur as an isolated defect or as
FIGURE 1A-146 Physiology of atrial septal defect (ASD). Circled numbers represent oxygen saturation part of other congenital cardiac syndromes
values. The numbers next to the arrows represent volumes of blood flow (in L/min/m2). This illustration shows a such as Ebsteins anomaly, Lutembacher
hypothetical patient with a pulmonary-to-systemic blood flow ratio (Qp/Qs) of 2:1. Desaturated blood enters the syndrome, or fetal alcohol syndrome.
right atrium from the venae cavae at a volume of 3 L/min/m2 and mixes with an additional 3 L of fully saturated
blood shunting left to right across the ASD; the result is an increase in oxygen saturation in the right atrium. Six CLINICAL PRESENTATION
liters of blood flow through the tricuspid valve and cause a mid-diastolic flow rumble. Oxygen saturation may be Small ASDs or PFOs may close spontane-
slightly higher in the RV because of incomplete mixing at the atrial level. The full 6 L flows across the RV outflow ously during infancy. The majority of ASDs are
tract and causes a systolic ejection flow murmur. Six liters return to the left atrium, with 3 L shunting left to right small and do not cause any symptoms during
across the defect and 3 L crossing the mitral valve to be ejected by the left ventricle into the ascending aorta (nor- infancy. These patients are usually diagnosed
mal cardiac output). (From Kliegman RM etal: Nelson textbook of pediatrics, ed 19, Philadelphia, 2011, Saunders.) by the presence of a cardiac murmur during
routine physical examination. Infants with
Superior Confines of large ASDs may presents with heart failure,
sinus true atrial recurrent respiratory infections, and failure
venosus septum to thrive.
Right
defect SVC atrial
Exertional fatigue and dyspnea are usually
Oval fossa appendage the main presenting symptoms.
LA SVC On rare occasions, young adults may pres-
defect
Inferior ents with ischemic stroke caused by para-
sinus * IVC ASD doxical embolism through the ASD or PFO.
venosus RA CS Trie Patients with ASDs caused by congenital
defect valve syndromes may present with clinical features
Coronary Atrioventricular related to the underlying syndrome.
sinus septal defect Eust Clinical Features:
A defect (ostium primum) B valve Cyanosis and clubbing (when abnormal right
FIGURE 1A-147 A, Schematic diagram outlining the different types of interatrial shunting that can be encoun- ventricular [RV] compliance has led to right-
tered. Note that only the central defect is suitable for device closure. B, Subcostal right anterior oblique view of to-left shunting)
a secundum atrial septal defect (ASD) (asterisk) that is suitable for device closure. The right panel is a specimen Increased jugular venous pressure (with RV
as seen in a similar view, outlining the landmarks of defect. CS, Coronary sinus; IVC, inferior vena cava; LA, left failure)
atrium; RA, right atrium; SVC, superior vena cava. (From Zipes DP etal [eds]: Braunwaulds heart disease, ed 7, Prominent RV impulse
Philadelphia, 2005, Saunders.)

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146 Atrial Septal Defect
Visible and palpable pulmonary artery pulsa- WORKUP
DIAGNOSIS
tions ECG:
Wide fixed splitting of S2 1. Ostium primum defect: left axis deviation,
Pansystolic murmur best heard at apex sec- incomplete or total right bundle branch
DIFFERENTIAL DIAGNOSIS
ondary to mitral regurgitation (ostium pri- block, prolongation of PR interval
mum defect) Primary pulmonary hypertension
2. Sinus venosus defect: right axis deviation,
Ejection systolic flow murmur (pulmonary Pulmonary stenosis
abnormal P axis
valve flow murmur) (Figure 1A-148) Rheumatic heart disease
3. Ostium secundum defect: right axis devi-
Diastolic rumble (atrioventricular valve flow Mitral valve prolapse
ation, incomplete or total right bundle
murmur) Cor pulmonale
branch block, right atrial enlargement
Anomalous pulmonary venous connection
IMAGING STUDIES
Chest x-ray: cardiomegaly, right heart enlarge-
Systole Diastole ment, increased pulmonary vascular pattern
Echocardiography (Fig. 1A-149): Transthoracic
echocardiography has a high degree of sen-
sitivity for diagnosing secundum and primum
ASDs. Echocardiography with saline bubble
contrast and Doppler flow studies may dem-
onstrate the size of the defect, the direction
of shunting, the presence of anomalous pul-
S1 A2 P2 S1 monary return (in sinus venosus ASD), right
heart volume overload, and elevated pulmo-
Pulmonary artery (S2) Tricuspid annulus nary artery pressures. It should be noted that
flow murmur (Fixed) flow murmur sinus venosus defects are frequently missed.
A Transesophageal echocardiography: It is much
more sensitive than transthoracic echocar-
diography in identifying sinus venosus defects
and can be helpful for all forms of ASD when
the transthoracic echo is nondiagnostic. It is
also useful to determine defect size, proximity
1 to other cardiac structures, and sizes of rims
Right atrium when determining suitability for device closure
2 and is therefore used in the catheterization
Left atrium laboratory to assist with these issues.
3 Cardiac catheterization: Right heart catheter-
ization will show evidence of step-up in
Mitral valve
oxygen saturation from SVC to RA, evidence
Tricuspid valve of elevated PA pressures.
Cardiac catheterization: Left heart catheter-
1 Sinus venosus Right ventricle Left ventricle ization is not usually a diagnostic necessity;
2 Secondum dilated it is only useful when the coronary arteries
3 Primum
need to be assessed before surgery. Right
B heart catheterization will reveal a step-up
FIGURE 1A-148 Atrial septal defect. A, Murmur at the left sternal edge. B, Anatomy. (From The patient with a
in arterial oxygen saturation in the right atri-
murmur. In Baker T, Nikolic G, OConnor S [eds]: Practical cardiology, Philadelphia, 2008, Elsevier.)
um compared with the superior vena cava.
This may not be the case in patients with
partial anomalous pulmonary venous return
associated with the sinus venosus type of
ASD. Right heart catheterization will also aid
in assessing shunt severity and the severity
of pulmonary hypertension and to assess
pulmonary vascular resistance (PVR) as well
as to assess pulmonary artery vasoreactivity
in response to vasodilators.
Cardiac MRI and CT: may be useful if echo-
cardiography is not diagnostic; MRI is the gold
standard for assessing RV size and function,
and it can determine whether the right-sided
chambers are, in fact, enlarged. MRI is also
useful to assess anomalous pulmonary venous
return and persistent left superior vena cava.
Cardiac CT can offer similar information.

TREATMENT
FIGURE 1A-149 Color flow Doppler apical four-chamber view showing blood flow from the left atrium (LA) to NONPHARMACOLOGIC THERAPY
the right atrium (RA) through a moderately sized atrial septal defect. LV, Left ventricle; RV, right ventricle. (From Symptomatic patients should avoid strenu-
Forbes CD, Jackson WF: Color atlas and text of clinical medicine, ed 3, London, 2003, Mosby.) ous activity.
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Asymptomatic patients with small defects with
shunts with a pulmonary to systemic flow ratio
(Qp/Qs) of <1.5:1 without pulmonary artery
hypertension (PAH) and normal RV size require
no medical therapy and may be observed.
Routine assessment of these patients includes
assessment of symptoms, arrhythmias, and
embolic events and serial echocardiography.
A repeat echocardiogram should be obtained
every 2 to 3 yr to assess RV size and func-
tion and pulmonary pressure; with increasing
age, the degree of left-to-right shunting may
increase due to progressive noncompliance
of the left ventricle with age-related acquired
heart disease.
GENERAL Rx
Children and infants: Closure of ASD before
age 10 yr is indicated if Qp/Qs is >1.5:1,
ASD size is significantly >5 mm, or if there is
evidence of RV dilation.
1. Small ASDs with a diameter of <5 mm and
no evidence of RV volume overload do not
impact the natural history of the individual
and thus may not require closure unless
associated with paradoxic embolism.
2. Closure of an ASD either percutaneously
or surgically is indicated for right atri-
al and RV enlargement with or without
symptoms.
3. A sinus venosus, coronary sinus, or pri-
mum ASD should be repaired surgically
rather than by percutaneous closure.
4. Surgical closure of secundum ASD is appro-
priate when concomitant surgical repair/
replacement of associated defects is needed
or when the anatomy of the defect pre-
cludes the use of a percutaneous device.
Adults: Closure of an ASD, either percutane-
ously or surgically, may be considered in the
presence of net left-to-right shunting with Qp/
Qs >1.5:1, right-sided chamber enlargement,
symptoms, pulmonary hypertension with pul-
monary artery pressure less than two-thirds
systemic levels, PVR less than two-thirds sys-
temic vascular resistance, or when pulmonary
hypertension is responsive to either acute or
chronic pulmonary vasodilator therapy. These
patients must be treated in conjunction with
providers who have expertise in the manage-
ment of adult congenital heart disease and
pulmonary hypertension.
Patients with severe irreversible PAH and no
evidence of a left-to-right shunt should not
undergo ASD closure.
Closure of an ASD, either percutaneously or
surgically, is reasonable in the presence of:
1. Paradoxic embolism (Class 2a indication)
2. Documented orthodeoxia-platypnea
(Class 2a indication)
Percutaneous catheter device closure is pos-
sible in many patients with secundum ASDs (if
stretched diameter is <41 mm with adequate
rims), with >95% success rate in appropriate
candidates. A combination of low-dose aspirin
and clopidogrel is usually prescribed for 3-6
months after the procedure to prevent throm-
bus formation. Early complications include
device thrombus formation, atrial arrhythmias,
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erosion, and device dislodgement. Potential
mid- and long-term complications include
late device erosion into the aortic root or
pericardium, atrial dysrhythmias, and infective
endocarditis. In one study the long-term out-
comes of device closure using the Amplatzer
septal occluder were excellent as evidenced
by no deaths and minimal complication in
151 patients followed for 6.5 years after ASD
closure. In October 2013 the Food and Drug
Administration (FDA) began alerting health
care providers and patients that in very rare
instances, tissue surrounding the Amplatzer
ASO can erode and result in life-threatening
emergencies that require immediate surgery,
especially when the rim adjacent to the aortic
root is <5 mm. Based on published estimates,
these events occur in approximately 1 to 3
of every 1,000 patients implanted with the
Amplatzer device. Close clinical follow up and
an echocardiogram is recommended predis-
charge, at 1 wk, at 6 mo, and at 12 mo after
implant.

Percutaneous closure is contraindicated in
those with sinus venosus, primum, or unroofed
coronary sinus defects. In addition, it is not
suitable for secundum defects with unsuit-
able anatomy (too large; too close to coronary
sinus, AV valves, or pulmonary veins; or inad-
equate rims), presence of sepsis, bleeding
disorder, or intracardiac thrombi.

In adult patients undergoing surgical clo-
sure, the surgical mortality should be <1%.
Surgical closure of ASD improves function
status, exercise capacity, and patient sur-
vival; however, it does not prevent atrial
fibrillation or stroke, especially if patients are
operated on after age 40. Concomitant maze
procedure may be considered for intermit-
tent or chronic atrial fibrillation in adults with
ASDs who are undergoing surgical repair.
DISPOSITION
Mortality rate is elevated in patients with large
ASDs if left untreated, with complications
such as RV failure, arrhythmias, paradoxic
embolism, and PAH leading to right-to-left
shunting (Eisenmenger syndrome).
Patients with small shunts (<1.5:1) have a
normal life expectancy.
Basic assessment for adult congenital heart
disease patients should include systemic arte-
rial oximetry, an ECG, chest radiograph, trans-
thoracic echocardiography, and blood tests for
full blood count and coagulation screen.
Intracardiac shunts are considered moderate
risk for preoperative evaluation for noncar-
diac procedure. High-risk features include
severe systolic dysfunction (ejection frac-
tion <35%), severe pulmonary hypertension
whether primary or secondary, cyanotic heart
disease, or severe left-side outlet obstruction.
Annual clinical follow-up is recommended
for patients postoperatively if their ASD was
repaired as an adult to monitor for PAH, atrial
arrhythmias, RV or left ventricular dysfunc-
tion, and coexisting valvular lesions.
Preoperative atrial fibrillation is a risk factor
for immediate postoperative and long-term
Atrial Septal Defect 147
atrial fibrillation. Patients with a repaired ASD
still have an increased risk for development
of atrial fibrillation that directly correlates A
with the age at which the defect is corrected
(later correction poses greater risk).
1. After closure, anticipated benefits include
improved functional status and exercise
capacity, improved survival after closure as
a child, improved quality of life, prevention
of right heart failure, and prevention of PAH.
2. Potential mid- to long-term complications
after ASD closure in adulthood include
tachyarrhythmias (atrial fibrillation or atrial
and Disorders
Diseases
flutter), bradyarrhythmias (sinus node dys-
function or heart block), stroke (greater risk
in older patients), residual ASDs (because
of patch dehiscence or incomplete closure
by device), right heart failure or PAH (risk
is correlated with the size of the original
defect and inversely related to age at time I
of closure), mitral valve regurgitation or
subaortic stenosis (in patients with primum
ASDs), device migration/erosion, and pul-
monary venous congestion (uncommon).
3.  Pregnancy is usually well tolerated in
women with ASDs. Follow-up during
pregnancy is recommended because of
small risk for paradoxic embolus, stroke,
arrhythmia, and heart failure. If known,
ASDs should be closed before pregnancy
is indicated. The sole contraindication
to pregnancy in women with an ASD is
severe PAH.
4. Scuba diving is generally contraindicated in
patients with unrepaired ASDs because of
the risk of paradoxical emboli. In addition,
high-altitude climbing should be avoided
because it can cause oxygen desaturation
from right-to-left shunting in these patients.
In regard to infective endocarditis prophylaxis
for dental procedures:
1. Prophylaxis is not indicated for an unre-
paired ASD.
2.  Prophylaxis is indicated for a repaired
ASD or any congenital heart disease with
prosthetic material as part of the repair
during the first 6 mo after the repair.
3.  Prophylaxis is indicated for a repaired
ASD or any congenital heart defect in the
presence of residual defects at the site or
adjacent to the site of a prosthetic patch
or prosthetic device (both of which inhibit
endothelialization).
The estrogen-containing oral contraceptive
pill is not recommended in acute congenital
heart disease patients at risk of thromboembo-
lism, such as those with cyanosis related to an
intracardiac shunt, atrial fibrillation, severe PAH,
or Fontan repair.
SUGGESTED READINGS
Available at www.expertconsult.com
RELATED CONTENT
Atrial Septal Defect (ASD) (Patient Information)
AUTHORS: ESHAN PATVARDHAN, M.B.B.S., and
JONATHAN GINNS, M.D.
Atrial Septal Defect 147.e1

SUGGESTED READINGS
Krasuski RA: When and how to fix a hole in the heart: approach to ASD and PFO,
Cleve Clin J Med 74:137, 2007.
Moake L: Transcatheter device closure for atrial septal defects: safety, efficacy,
complications, and costs, Crit Care Nurs Clin North Am 23(2):339348, 2011.
Warnes CA, etal.: ACC/AHA 2008 guidelines for the management of adults with
congenital heart disease: a report of the American College of Cardiology/
American Heart Association Task Force on Practice Guidelines (Writing
Committee to Develop Guidelines for the Management of Adults With
Congenital Heart Disease), J Am Coll Cardiol 52:e143e263, 2008.
Webb G, Gatzoulis MA: Atrial septal defects in the adult: recent progress and
overview, Circulation 114:16451653, 2006.

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