Congenital Heart Defects

Embryology
• The entire cardiovascular system—heart, blood
vessels, and blood cells—originates from the
mesodermal germ layer.
• Initially paired, but by the 22nd day of
development the two tubes form a single, slightly
bent heart tube
• It now consists of an inner endocardial tube and a
surrounding myocardial mantle.
• During the 4th to 7th weeks the heart divides into
a typical four-chambered structure.
 Embryology
• Septum formation in the heart in part arises
from development of endocardial cushion
tissue in the atrioventricular canal
(atrioventricular cushions) and in the
conotruncal region (conotruncal swellings).
• Because of the key location of cushion tissue,
many cardiac malformations are related to
abnormal cushion morphogenesis.
 Embryology
• 12 weeks: the primitive vascular tube is fully
developed.
• In the fetal circulation, the right and left
ventricles pump blood in parallel rather than in
series.
• This is possible because of the presence of three
structural shunts: the ductus venosus, the
foramen ovale and the ductus arteriosus
• The heart and head to receive more highly
oxygenated blood.
Fetal circulation before birth
 Circulatory changes at birth
• After birth: the action of breathing and the
resulting pulmonary vasodilatation leads to a
fall in pulmonary vascular resistance.
• within 30 min of delivery, the ductus
arteriosus constricts in response to an
increase in blood oxygen levels.
• Result: a reversal of the pulmonary–systemic
pressure gradient and termination of blood
flow from the pulmonary artery into the aorta.
 Circulatory changes at birth
• Then cutting and tying the umbilical cord:
stops venous blood flow from the placenta.
• This lowers the pressure in the inferior vena
cava and, with the fall in pulmonary vascular
resistance, right atrial pressure falls.
• Result: closure of the foramen ovale.
• Abolition of venous return from the placenta
causes the ductus venosus to close.
 Circulatory changes at birth
• Initially, the closure of the fetal circulatory
shunts in the few hours following birth is
functional.
• Complete structural closure takes several
months.
 Clinical correlate
Abnormalities of cardiac structure may arise from:
• persistence of normal fetal channels
– PDA, patent foramen ovale
• failure of septation
– ASD,VSD, TOF
• Stenosis
– intracardiac–supravalvular, valvular, infravalvular or
extracardiac–coarctation of the aorta
• atresia or abnormal connections
– TGA, TAVD.
 Incidence
• UK: most common congenital abnormality
• Significant cardiac abnormalities: 8 cases per
1000 live births.
• Spontaneous abortions or stillbirths have cardiac
malformations or chromosomal abnormalities
associated with structural heart defects.
• In neonates and children with CHD, 15% will have
more than one cardiac abnormality and 15% will
have another extracardiac abnormality.
 Aetiology
• no obvious aetiology
• most abnormalities appear to be
multifactorial
• both genetic and environmental influences.
Recognised associations with CHD
• Maternal (environmental) factors
o Infection: rubella
o Disease: systemic lupus erythematosus, diabetes
mellitus
o Drugs/medications: alcohol abuse, warfarin,
phenytoin
• Genetic factors
o Single gene defects: Marfan’s, Noonan’s and Holt–
Oram’s syndromes
o Chromosomal defects: trisomy 21 (Down’s syndrome),
trisomy 18 (Edwards’ syndrome), trisomy 13 (Patau’s
syndrome), Turner’s syndrome
o Deletions: DiGeorge’s and Williams’ syndromes
 Diagnosis
History
• Antenatal and infancy: specific questions about
maternal health and drug intake during
pregnancy; a detailed FHx (some defects are
familial).
• Adoloscents and adults: detailed review of the
patient’s PMHx (h/o palpitations, dysrhythmias,
syncope, and neurologic deficit).
• When possible, secure and review records from all
previous diagnostic and procedural reports.
 Diagnosis
Examination:
• General: Evidence of heart failure, FTT and
cyanosis
• Chest: previous surgical incision scars
• CVS: rhythm, point of maximal impulse, and
character of any auscultated murmurs. Also
hypertension, an arrhythmia, evidence of
polycythaemia or a thromboembolic event
 Diagnostic tests
• Pulse oximetry- all 4 extremities
• CXR – AP and lateral
• ECG
• Echocardiography
• MRI and CT
• Cardiac catheterization
• Electrophysiologic study, and/or provocative
testing
 Classification
• Acyanotic vs Cyanotic
• Other(anatomical) “classification”
 Acyanotic heart defects
Left to right shunting heart defects include:
• VSD (30% of all congenital heart defects)
• Patent ductus arteriosus (PDA)
• Atrial septal defect (ASD)
• Atrioventricular septal defect (AVSD)
Others:
• levo-Transposition of the great arteries (l-TGA)
Acyanotic heart defects without shunting include:
• Pulmonary stenosis (narrowing of the pulmonary
valve)
• Aortic stenosis
• Coarctation of the aorta
 Cyanotic heart defects
• Tetralogy of Fallot (ToF)
• Total anomalous pulmonary venous connection
• Hypoplastic left heart syndrome (HLHS)
• Transposition of the great arteries (d-TGA)
• Truncus arteriosus (Persistent)
• Tricuspid atresia
• Interrupted aortic arch
• Pulmonary atresia (PA)
• Pulmonary stenosis (critical)
• Eisenmenger syndrome (reversal of shunt due to
pHTN) .
• PDA may cause cyanosis in late stage
 Other “clasification”
• Defects associated with increased pulmonary
blood flow
– Persistent arterial duct
– Aortopulmonary septal defect / aortopulmonary
window
– Atrial septal defect
• Ventricular septal defect
– Perimembranous VSD
– Muscular VSD
– Subarterial (supracristal or outlet) VSD

• Atrioventricular septal defect

• Persistent arterial trunk ( truncus arteriosus)

• Abnormalities of venous drainage
– Total anomalous pulmonary venous return
• Obstructed TAPVR
• Cor triatriatum
– Anomalous systemic venous drainage
• Cyanotic congenital heart disease
– TOF
– Pulmonary atresia and intact ventricular septum
– Pulmonary atresia with VSD
– Valvular pulmonic stenosis
• Conotruncal anomalies
– Transposition of the great arteries
• TGA – Intact ventricular septum
• TGA – VSD with or without arch hypoplasia
• TGA – VSD with Pulmonary Stenosis–Left Ventricular
Outflow Tract Obstruction or Pulmonary Atresia
– Double-Outlet Right Ventricle
– Congenitally Corrected Transposition of the Great
Arteries (L - Transposition)
• Left Ventricular Outflow Tract Obstruction
– Valvular Aortic Stenosis
– Fibromuscular Subaortic Stenosis
– Tunnel Subaortic Stenosis

• Aortic Arch Anomalies

– Aortic Coarctation
– Interrupted Aortic Arch
• SINGLE VENTRICLE
– Tricuspid Atresia
– Hypoplastic Left Heart Syndrome
• MISCELLANEOUS ANOMALIES
– Vascular Rings and Pulmonary Artery Slings
– Coronary Artery Anomalies
• Anomalous Left Coronary Artery Rising From the Pulmonary
Artery
– Ebstein’s Anomaly of the Tricuspid Valve
– Mitral Valve Anomalies
 Patent Ductus Arteriosus
• The ductus arteriosus
connects the pulmonary
artery to the descending
aorta during fetal life.

• PDA results when the

ductus fails to close after
birth.

Picture: www.lpch.org
 PDA
Epidemiology
Prevalence of PDA in neonates at several days of
age varies from 20% to 80%
varies inversely with gestational age and birth
weight.
frequently associated with other heart defects,
ranging in severity from patent foramen ovale
to complex congenital malformations.
 Pathophysiology
• Genetic defects: genes that encode PG receptors
and regulators of smooth m. cell contraction
• In utero: the DA shunts mostly right to left.
• Birth: expansion of the lungs, loss of the placental
source of PGs, increased degradation of PGs in
the lungs, and increased arterial oxygen tension
stimulate constriction of sensitive smooth m.
cells in the wall of the ductus.
– PGs: prematures (indomethacin); O2 term infants
 Natural history
• Spontaneous closure within 4 days:
• 90% to 95% of full-term infants
• 80% to 90% of premature infants at 30 to 37
weeks’ gestational age.
• In extremely LBW infants, only 50% with
spontaneous closure (inversely ptoportional)
• Diastolic steal → renal hypoperfusion, intestinal
ischemia, NEC, reduced MCA blood flow velocity,
and increased risk of IVH.
 Natural history
Long-term risks of PDA
• In term infants: development of endocarditis,
CHF, and, eventually, irreversible pulmonary
vascular obstructive disease.
• Eisenmenger’s Syndrome: reversal of the
shunt due to pHTN
• Estimated mortality without intervention is
60% by 60 years of age.
 Clinical Presentation
• Most infants: an asymptomatic continuous
murmur.
• Large duct → significant left-to-right shunting,
then symptoms of CHF develop.
• Premature infants :
– susceptible to the hemodynamic effects of PDA.
– Hypotension (diastolic hypotension)
– are at increased risk of developing malperfusion of
the viscera → which can lead to renal insufficiency
and NEC.
• Older patient with pulmonary hypertension:
Cyanosis.
 Diagnosis
• Plain CXR:
– cardiomegaly, signs of pulmonary congestion, and
pulmonary edema.
– Older patients: calcification in the wall of the ductus
or enlarged pulmonary arteries (characteristic of
pHTN)
• Transthoracic echocardiography
– Diagnostic
– Confirm side of arch
– Associated anomalies (PFO)
 Diagnosis
• CT or MR angiography in adults.
• Diagnostic cardiac catheterization (if pHTN is
suspected)
 Treatment
Medical
• In premature neonates, medical treatment of
PDA can be prophylactic or symptomatic.
• COX inhibitors (within the first 24 hours for
prophylaxis)
• Closure rate between 60% and 80% with one
course of indomethacin; subsequent courses is
40% @.
• Complications: renal impairment, intestinal
perforation, and NEC.
 Treatment
Surgical
In premature infants
• Indications:
– failed medical therapy in symptomatic patients
– those who develop contraindications to COX
inhibitor therapy
• Reserving surgery vs early surgery
 Treatment
• Pre-op: medical stabilization, exclusion and
appropriate treatment of active infections.
• Procedure:
– Surgical ductal ligation via a left thoracotomy
(commonly)
– Or Video-assisted thoracoscopic surgery (VATS),
and the PDA is occluded by placement of an
external clip.
 Treatment
• Full-Term Infants, Children, and Adults
– Surgical or transcatheter closure is the mainstay of
therapy.
– both symptomatic and asymptomatic patients to
reduce the risks of endocarditis and pulmonary
hypertension.
– Ductal division and suturing (double): advocated
by some to avoid the risk of recanalization.
 Prognosis
• Less than 1% operative mortality in full-term
infants and children
• Premature infants with multiple comorbidities
may have hospital mortality as high as 20%.
• Complications:
– left recurrent laryngeal nerve injury, bleeding,
postoperative chylothorax, and development of
coarctation.
 TETRALOGY OF FALLOT
The four features of this anomaly include:
(1) ventricular septal defect (VSD),
(2) infundibular pulmonic stenosis,
(3) right ventricular hypertrophy, and
(4) dextroposition of the aorta

(Etienne-Louis Arthur Fallot, 1888)

 ANATOMY AND PHYSIOLOGY
• The four TOF components can be attributed
directly to the anterior and leftward
displacement of the infundibular or
infundibular septum.
– It variably narrows the RVOT, leading to
subpulmonic obstruction that may be complete
(atresia).
– Displacement of the infundibular septum away
from the anterior and posterior limbs of the
trabecula septomarginalis results in the typical
anterior malalignment VSD.
 ANATOMY AND PHYSIOLOGY
– The aortic valve is located directly behind the
infundibular septum, hence, with anterior
displacement of the infundibular septum, the
aortic valve overrides the interventricular septum
and attains some degree of association with the
right ventricular cavity
– Right ventricular hypertrophy is a consequence of
equalization of pressures in the right and left
ventricles by virtue of an unrestrictive VSD
 Other Anatomic Features
• A right aortic arch is seen in approx. 25% of
cases.
• A PFO is commonly seen, but a true ASD is
probably present only 10% of the time.
• Multiple VSDs, PDA, and complete AVSDs are
among the most common.
 CLINICAL PRESENTATION
• Cyanosis:
– severity of RVOT obstruction determines the
degree of right-to-left shunting, hence the degree
of cyanosis and the age of presentation.
– Acyanotic or pink tetralogy: TOF patients with mild
right-sided obstruction; they have normal room
air saturations and CCF(predominant left-to-right
shunting through the unrestrictive VSD)
– Think about additional sources of pulmonary
blood flow in patients with severe RVOT
obstruction and disproportionate degree of
cyanosis
 CLINICAL PRSENTATION
• Hypercyanotic episodes (“tet spells”)
• Complications of long-standing cyanosis:
– polycythemia leading to cerebrovascular
thrombosis, hemoptysis secondary to enlarged
bronchial arteries, paradoxical embolism, or brain
abscess.
– These are rare with the widespread use of pulse
oximetry
• Squatting: classic behavioral adaptation of
older children with TOF
 Clinical Examination
• Variable degrees of cyanosis
• Auscultation: moderate-intensity midsystolic
ejection murmur, heard loudest in the 2nd and
3rd left intercostal space, which may radiate
into the axilla.
• digital clubbing (rare in the present era).
• Pink tetralogy patients: findings more typical
of pulmonary overcirculation and CCF
 Diagnosis
Plain Chest Radiograph
• Boot-shaped heart (coeur en sabot)
– caused by right ventricular hypertrophy
• the lung fields usually appear to be oligemic in
proportion to the degree of cyanosis;
– If normal, other sources of pulmonary blood flow,
e.g., aortopulmonary collateral arteries.
• A right aortic arch occurs in about 25% of
cases.
 Diagnosis
Electrocardiogram
• demonstrates right ventricular hypertrophy,
– difficult to differentiate from normal in newborns.
 Diagnosis
Laboratory Studies
• Polycythemia due to chronic cyanosis
– if absent, suspect IDA.
• Blood sampling to determine the presence of
a deletion on the long arm of chromosome 22
(22qll.2):
– about 10% of patients with TOF and pulmonic
stenosis have such a chromosomal deletion
 Diagnosis
Echocardiography:
– the number and location of VSDs,
– the nature of the RVOT obstruction,
– the anatomy of the proximal branch pulmonary
arteries, and the coronary artery pattern
• Prenatal echocardiography can accurately
diagnose conotruncal defects such as TOF by
the mid to late second trimester.
 Diagnosis
Cardiac Catheterization
• Angiography remains a highly accurate
diagnostic modality that can identify all of the
important anatomic features of TOF.
 Management
Medical Management
Outpatient Management
• TOF is remediable only by surgical
intervention
• Medical management only optimizes a
patient’s surgical candidacy
• Diuretics only for “pink tets” to treat
congestive heart failure.
• Beta blockers, O2
 Management of Hypercyanotic
Episodes
• True clinical emergencies
• End-organ, particularly cerebral, oxygenation is
critically low.
• Basic treatment principles include
– administration of intravenous fluids, morphine or
other intravenous sedatives, and oxygen.
– Placing the infant in a knee-to-chest position
– Intravenous beta-blockers such as esmolol and α
agonists such as phenylephrine
• Prompt surgical repair, unless a known significant
concurrent illness needs treatment first
 Balloon Pulmonary Valvuloplasty
• to palliate infants and children with TOF and
pulmonary stenosis or when when immediate
surgery is best deferred.
• Challenge: may not relieve the multiple levels
of obstruction to pulmonary blood flow that
are commonly seen in tetralogy patients,
especially those who are most symptomatic in
infancy.
 Surgical therapy
Goals:
(1) close intracardiac shunts,
(2) provide relatively unobstructed pulmonary
blood flow,
(3) maintain normal function of the right
ventricle,
(4) maintain normal function of the pulmonary
and tricuspid valves, and
(5) maintain normal sinus rhythm with minimal
cumulative morbidity or mortality.
 Surgical therapy
• Median sternotomy with bicaval cannulation
and continuous cardiopulmonary bypass.
• Intracardiac Portion of the Repair: Access to
the VSD and obstructing muscle bundles in
the RVOT via transventricular or transatrial
incision
• Pulmonary portion of the repair
 Follow-up
• Post-op: relatively uncomplicated postoperative
courses.
– Inotropic support is usually provided with low doses
of dopamine
– Extubation is usually possible in the first 12-48 hours
after surgery.
• Pulmonic insufficiency after TOF may require late
pulmonary valve replacement.
• Arrhythmias: these occur with increasing
frequency as the duration of follow-up increases.
 COARCTATION OF THE AORTA
Epidemiology:
• comprises 4% to 8% of cases of CHD
• incidence in the general population is
estimated at 0.2 per 1000 live births.
• M:F is 2:1
• It can occur in association with a variety of
other heart defects:
– 50% of patients with COA have bicuspid aortic
valve.
 – A ventricular septal defect (VSD), seen in 30% to
60% of patients, leading to LVOT obstruction.
– associated hypoplasia of left heart structures is
relatively common
• Incidence of coarctation in patients with right
aortic arch has been estimated to be
approximately 4%.
 Anatomy and Pathophysiology
• Discrete coarctation of the aorta at the isthmus
probably results from abnormal infiltration of
ductal tissue onto the juxtaductal aorta.
• The contractile ductal tissue in the aorta
constricts synchronously with ductal closure,
resulting in luminal narrowing of the aorta and
development of a posterior shelf.
– It is not uncommon for the aorta to appear to be of
adequate size in the presence of a patent ductus
arteriosus, yet manifest coarctation after ductal
closure.
Coarctation of the aorta & Alternative locations
relative to the ductus arteriosus

A: Ductal coarctation
B: Preductal coarctation
C: Postductal coarctation
 Natural History
• Collateral vessels become prominent as a result
of increased flow in the intercostal, internal
mammary, and scapular blood vessels.
• The increased flow in these vessels can be
sufficient to reduce the blood pressure gradient
between the upper and lower extremities at rest.
• With exercise, however, the gradient may rise
significantly because of the elevated vascular
impendance
 Natural History
• Upregulation of circulating catecholamines
and the RAS leads to systemic HTN.
• Left ventricular hypertrophy is a result of
elevated vascular resistance.
• Untreated coarctation is associated with 75%
mortality by age 50, due to the systemic
effects of HTN.
 Clinical presentation
• Nearly half of these patients develop
symptoms within the first month of life
• Neonates with unsuspected critical COA
usually present with systemic hypoperfusion,
metabolic acidosis, and CHF manifested as
tachypnea and difficulty feeding.
• The timing of onset of symptoms generally
correlates with constriction of the PDA
 Clinical presentation
• With less severe degrees of coarctation, or in
the presence of sufficient collateral
development, symptoms may not develop
until infancy or adolescence.
• Asymptomatic patients present with a
murmur or hypertension.
• Young adults usually present with HTN
refractory to pharmacotherapy, exercise
intolerance, headaches, or angina.
 Clinical examination
The classic physical findings:
• brachiofemoral pulse delay, diminished or
absent femoral pulses, and a blood pressure
gradient between the upper and lower
extremities.
• No significant gradient in the presence of well-
developed collaterals.
• A systolic ejection murmur over the base of
the heart and the left interscapular region.
 Diagnosis
• ECG: evidence of left ventricular hypertrophy
in older patients.
• Plain CXR:
– Infants with severe coarctation: signs of cardiac
enlargement and pulmonary congestion.
– Adolescents or adults: figure-3 sign resulting from
proximal and poststenotic dilation of the aorta.
Notching of the inferior border of the ribs from
the development of intercostal collateral vessels is
common by adolescence.
 Diagnosis
Echocardiography:
• The segment of coarctation can be visualized
easily in neonates and children
• Normalized measurements of the transverse
aorta, aortic isthmus, and descending aorta
are also obtained.
• Associated VSD, aortic and mitral valvular
abnormalities, and ventricular hypoplasia can
be ruled out.
 Diagnosis
• CT, CT angiography, and MRI:
– these provide superior imaging of the transverse
and descending aorta, and the extent of collateral
development
• Catheterization with angiography:
– to determine the diagnosis and severity of
coarctation
 Treatment
Medical Management
• Medical stabilization before surgery: this results
in better outcomes than immediate operation.
Surgical Repair
• Thoracotomy on side corresponding to arch
• Repair techniques: end-to-end anastomosis,
prosthetic patch angioplasty, subclavian artery
flap angioplasty, interposition grafts, and bypass
procedures.
Others
Balloon angioplasty with stenting
• effective and is the treatment of choice for
recurrent COA
• Techniques:
– Transcatheter Intervention
– Percutaneous Intervention
 Complications
• Related to the thoracotomy and aortic
dissection: pneumothorax, chylothorax,
recurrent laryngeal nerve injury and bleeding
from large collateral vessels
• Persistent late hypertension(), mesenteric
arteritis, spinal cord ischemia, aneurysm
formation, and recurrent coarctation.
• Acute abdominal pain ?? 20 to mesenteric
arteritis
 Prognosis
• 1-5% operative mortality for neonates and infants
• The 10-year survival rate after repair is approx. 90%
• Longer-term survival (30 to 40 years after repair) is
approx. 70%.
• 10% to 30% incidence of recoarctation in infants, with
younger age being a significant risk factor for
recurrence and shorter duration to reintervention.
• The presence of a small transverse arch is also a risk
factor for re-intervention.
• 70% of adult patients require ongoing long-term
antihypertensive therapy.
The End