Dr. Sunil P.V.

1. Classify the common congenital

defects of the heart.
2. Describe their pathogenesis,
pathophysiology, clinical features and
epidemiology
Human cardiac development, emphasizing the three sources of cells. A, Day 15. First heart field (FHF)
cells (shown in red) form a crescent shape in the anterior embryo with second heart field (SHF) cells
(shown in yellow) near the FHF. B, Day 21. SHF cells lie dorsal to the straight heart tube and begin to
migrate (arrows) into the anterior and posterior ends of the tube to form the right ventricle (RV),
conotruncus (CT), and part of the atria (A). C, Day 28. Following rightward looping of the heart tube,
cardiac neural crest cells (shown in blue) also migrate (arrow) into the outflow tract from the neural
folds to septate the outflow tract and pattern the bilaterally symmetric aortic arch arteries (III, IV, and
VI). D, Day 50. Septation of the ventricles, atria, and atrioventricular valves (AVV) results in the
appropriately configured four-chambered heart. Ao, aorta; AS, aortic sac; DA, ductus arteriosus; LA, left
atrium; LCA, left carotid artery; LSCA, left subclavian artery; LV, left ventricle; PA, pulmonary artery; RA,
right atrium; RCA, right carotid artery; RSCA, right subclavian artery; V, ventricle.
 Approx 1% of live births
(higher with still births)
 Most common type of
heart disease among
children
 Faulty embryogenesis
during weeks 3 through 8
• Chronic alcoholism - VSD
• Rubella - PDA, ASD, PS,
etc.
a. UNKNOWN - In 80% of the
cases
b. GENETIC: Trisomies
13,15,18, 21 , Turner’s
syndrome and Di George
syndrome.
c. ENVIRONMENTAL: 3 to
8weeks of embryogenesis-
Rubella, Thalidomide,
alcohol, phenytoin, lithium,
oestrogenic steroids,
mothers with IDDM.
 Aetiology:
 Unknown, multifactorial inheritance, genetic
factors
 high incidence in first degree relatives.
 3% have a single gene defect,13% have associated
chromosomal abnormalities.
 2-4% are associated with environmental or
maternal conditions & teratogenic influences.
 Gender differences:
 ASD,VSD,PDA & Pulmonic stenosis more common in girls,
 left sided lesions commoner in boys.
 Left-to-Right shunts.  No shunts
 Atrial Septal Defect (ASD)  Coarctation of aorta
 Ventricular Septal Defect
(VSD)  Pulmonary stenosis
 Patent Ductus Arteriosus  Aortic stenosis
(PDA)  Ebstein malformation
 Right-to-Left shunts
 Tetralogy of Fallot
 Endocardial fibroelastosis
 Tricuspid atresia  Complete heart block
 Persistent truncus  Coronary artery origin from
arteriosus pulmonary artery
 Transposition of great
vessels
 Total anomalous
pulmonary venous
connection
 Obstructions
 Coarctation of Aorta
 Aortic Stenosis & Atresia
 Atrophy/Hypoplasia/
Abnormal Valves etc.
 CHD - Left to Right Shunts
Defect Mechanism
There is a hole within the
membranous or muscular portions
VSD of the inter-ventricular septum
that produces a left-to-right shunt,
more severe with larger defects
A hole from a septum secondum or
septum primum defect in the inter-
ASD
atrial septum produces a modest left-
to-right shunt
The ductus arteriosus, which
normally closes soon after birth,
PDA
remains open, and a left-to-right
ACYANOTIC - CYANOTIC: PATHOPHYSIOLOGY
PATHOPHYSIOLOGY
Acyanotic congenital hearts  Decreased pulmonary
are explained according to blood flow:
where the predominant  Tetralogy of Fallot,
physiologic load is placed. Pulmonary atresia,
Tricuspid atresia, Single
Volume load: L-R shunts- ventricle with pulmonary
ASD,VSD,PDA. stenosis.
Pressure load: outflow  Increased pulmonary
obstruction – Pulmonary, blood flow:
aortic valve lesions,  Transposition of great
coarctation of the aorta vessels, Truncus
arteriosus
 Defect within the
membranous or
muscular portions of
the interventricular
septum that produces a
left-to-right shunt,
more severe with
larger defects.
 Perimembranous (or membranous) – Most
common.

 Infundibular (subpulmonary or supracristal

VSD) – involves the RV outflow tract.

 Muscular VSD – can be single or multiple.

( Swiss- cheese septum)

 AVSD – inlet VSD, almost always involves AV

valvular abnormalities.
The VSD permits a left-to-right shunt to occur
at the ventricular level and blood flow depends
on
the size of the defect
the pulmonary vascular resistance (PVR) being
less than the systemic vascular resistance
(SVR)

Aleft-to-right shunt at the ventricular level

has 3 adverse hemodynamic consequences:
(1) Right ventricular (RV) volume overload
(2) increased pulmonary blood flow
(3) compromise of systemic cardiac output
• Small - moderate VSD, 3-6mm, are usually
asymptomatic and 50% will close
spontaneously
by age of 2yrs

• Moderate – large VSD, almost always have

symptoms and will require surgical repair
VSD

#
The most common physical
finding is a harsh grade IV-
VI holosystolic murmur.
The murmur is best heard
along the left sternal
border

The murmur of VSD does

not radiate to the left
axilla, as with mitral
regurgitation, and does not
increase in intensity with
inspiration, as with
tricuspid regurgitation

#
Generally, the smaller the
defect, the more turbulent 15
Reversal of shunt.
There is late onset of
cyanosis (tardive
cyanosis) in such
cases.
Here, there is right
ventricular
hypertrophy, and may
present with
exertional dyspnea,
chest pain, syncope,
hemoptysis, cyanosis,
clubbing, and
 Pulmonary arteries ( <1 mm in diameter)

Medial hypertrophy/ vasoconstriction

Prolonged pulmonary arterial vasoconstriction

Irreversible obstructive intimal lesions

Pulmonary pr. towards systemic levels

Reversal of the shunt

 Defect in the interatrial septum
allowing pulmonary venous
return from the left atrium to
pass directly to the right atrium
 Enlarged right heart & pulmonary
vessels.
 ASD,Ostium secundum type
 Lutembacher syndrome- Mitral stenosis
with ostium secundum ASD
 Sinus venosus type- entrance of SVC
 ASD,ostium primum type-Near AV
valves
 Atrioventricular canal
 Coronary sinus ASD – rarest
 Patent foramen ovale – Paradoxical
emboli
• Depending on the size of the defect, size
of the shunt, and associated anomalies
 spectrum of disease
 no significant cardiac sequelae to right-
sided volume overload, pulmonary
arterial hypertension, paradoxical
emboli, endocarditis and even atrial
arrhythmias.
• Most are asymptomatic but may have
easy fatigability or mild growth failure.
• Cyanosis does not occur unless
pulmonary hypertension is present.
 Ductus arteriosus, serves
to shunt blood from
pulmonary artery to aorta
during intrauterine life.
Persistence of ductus,
which normally closes soon
after birth, results in left-
to-right shunt- leading to
pulmonary hypertension.
 Most common congenital heart disease
 Common in mothers infected with
Rubella virus early in pregnancy.
 Common in premature infants
 In full term infants with PDA, ductus
has abnormal endothelium and media
and rarely closes spontaneously.
 Diversion of blood from aorta to low
pressure pulmonary artery.
 Leads to pulmonary hypertension
 Infective endocarditis if untreated
 Eisenmenger’s complex –Pulmonary
arterial pressure overcomes the
systemic pressure with reversal in shunt.
Resulting venous admixture leads to
cyanosis.
03/21/25 ME 08 January 2009 28
‘T’
Transposition of great vessels

Tetralogy of Fallot

Total anomalous pulmonary venous

connection
Truncus arteriosus

Tricuspid atresia
 •Pulmonary stenosis results in
Tetralog •Right ventricular hypertrophy and a
y of •Right-to-left shunt across a VSD,
Fallot which also has
•• Overriding
The aorta arises
aorta from the right
Transpo ventricle and
sition of • Pulmonary trunk from the left
ventricle.
Great
• A VSD, or ASD with PDA, is needed
Vessels for extra-uterine survival. There is
right-to-left shunting.
There is incomplete separation of the
Truncus aortic and pulmonary outflows, along
Arterios with VSD, which allows mixing of
us oxygenated and deoxygenated blood
and right-to-left shunting
Total The pulmonary veins do not directly connect
Anomalou to the left atrium, but drain into left
s innominate vein, coronary sinus, or some
Pulmonary other site, leading to possible mixing of
Venous blood and right-sided overload
Connectio
n (TAPVC)

Complete occlusion of tricuspid valvular

Tricuspid orifice. Unequal division of AV canal. Mitral
atresia valve larger than normal with hypoplasia of
right ventricle.
 Pulmonic stenosis results
in right ventricular
hypertrophy and a right-to-
left shunt across a high
VSD, which also has an
overriding aorta.
 Common cause of Cyanotic
heart disease.
Boot shaped heart
 VSD-Membranous location-
malaligned.

 Overriding aorta. The aorta is shifted

to the right (dextroposition).

 Right ventricular outflow tract

obstruction
 Most severe form is pulmonary
valve atresia. Pulmonary artery is
relatively hypoplastic.

 Right Ventricular hypertrophy-

compensatory due to pressure &
outflow obstruction.
Clinicalconsequences depend on the
severity of sub-pulmonary stenosis
Dyspnea, squatting position, cerebral
thrombosis. Develop complications of
chronic cyanosis- polycythemia, digital
clubbing.
Also at risk for bacterial endocarditis, and
brain abscesses.
Surgery- offers excellent results at present.

36
Tetralogy of Fallot

"IHOP-International House of
Pancakes"
Interventricular septal defect
Hypertrophy of right ventricle
Overriding aorta
Pulmonary stenosis
 obstruction to flow of deoxygenated blood from
the right ventricle to the pulmonary artery

 decreased oxygenation due to poor perfusion

of the blood

 shunting of deoxygenated blood from the right

ventricle to the aorta across the ventricular
septal defect (facilitated by aortic override)

 poor systemic oxygenation, low haemoglobin

saturation and cyanosis
 Cyanosis not usually noticed at
birth

 causes
 child less active in the initial few
months
 foetal haemoglobin has more affinity
for oxygen than adult haemoglobin
 cyanosis manifests more as child
becomes more active

 physical growth is usually good

 mental development may be delayed in

severe cases due to chronic hypoxia of
the brain
 Typical of Fallot’s tetralogy

 Usually occurs when the child

cries or is very active as when
the child wakes up from sleep
Tetralo
gy:
arrow
probe =
VSD
No
arrow
probe =
pulmoni
c
stenosis
 the cardiac silhouette
in patients with
tetralogy of Fallot is
normal in size;
however, right
ventricular
hypertrophy can
elevate the left
ventricle. Combined
with a small or absent
main pulmonary
artery segment, the
heart can have the
classic boot-shaped
appearance
 Transposition of the great arteries
(TGA) is the most common
cyanotic congenital heart lesion
that presents in neonates.
 The hallmark is
ventriculoarterial discordance,
in which the aorta arises from the
morphologic right ventricle and the
pulmonary artery arises from the
morphologic left ventricle
 Aorta arises from the right ventricle,
pulmonary artery from the left ventricle.
AV connections are normal.
 Embryologic defect is in abnormal
formation of the truncal and
aortopulmonary septa.
 50% have VSD and two thirds have PDA.
ASD may also be associated.
 Outlook depends on the degree of
mixing of the blood.
 Cyanosis is predominant.
 The pulmonary and systemic
circulations function in parallel, rather
than in series.
 Oxygenated pulmonary venous blood
returns to the left atrium and left
ventricle but is recirculated to the
pulmonary vascular bed via the
abnormal pulmonary arterial
connection to the left ventricle.
 Deoxygenated systemic venous blood returns
to the right atrium and right ventricle
 subsequently pumped to the systemic
circulation, effectively bypassing the lungs.
 Parallel circulatory arrangement
 deficient oxygen supply to the tissues and an
excessive right and left ventricular workload.
 incompatible with prolonged survival unless
mixing of oxygenated and deoxygenated blood
occurs at some anatomic level
 Pathophysiology of
truncus arteriosus
is typified by
cyanosis and
systemic
ventricular volume
overload.
 Outflow from both
ventricles is
directed into the Image courtesy of the
common arterial American Heart
trunk Association
 Downward displacement of an abnormal tricuspid
valve into an underdeveloped right ventricle.
 Divides the ventricle into an ‘atrialized’ ventricle
(proximal) and the functional right ventricle (distal).
 Leads to heart failure, massive right ventricular
dilatation, arrhythmias with palpitations and
tachycardia, sudden death.
 Leaflet anomaly leads to tricuspid
regurgitation.
 Atrialized portion of the right ventricle,
although anatomically part of the right
atrium, contracts and relaxes with the right
ventricle.
 Discordant contraction leads to stagnation
of blood in the right atrium.
 During ventricular systole, the atrialized
part of the right ventricle contracts with
the rest of the right ventricle
 causes a backward flow of blood into the
right atrium
 A, Classic tetralogy of
Fallot. The direction of
shunting across the
ventricular septal defect
(VSD) depends on the
degree of the
subpulmonary stenosis;
when severe, a right-to-left
shunt results (arrow). B,
Transposition of the great
arteries with and without
VSD. Ao, aorta; LA, left
atrium; LV, left ventricle;
PT, pulmonary trunk; RA,
right atrium; RV, right
ventricle.
 There are varying degrees of
Hypoplastic hypoplasia or atresia of the aortic
Left Heart and mitral valves, along with a
Syndrome small to absent left ventricular
chamber
Either just proximal (infantile form)
Coarctation or just distal (adult form) to the
of Aorta ductus is a narrowing of the aortic
lumen, leading to outflow obstruction

Isolated or usually associated with

Pulmonary TOF or TGA.
stenosis and Right ventricular hypertrophy
atresia occurs with poststenotic dilatation of
pulmonary artery.
 Coarctation of the aorta
 Pulmonary stenosis and atresia
 Aortic stenosis and atresia (valvular,
subvalvular and supravalvular) – (leads to
severe left hypoplastic heart syndrome due to
underdevelopment of the left ventricle and
the ascending aorta)
 Either just proximal

(infantile form) or just

distal (adult form) to the

ductus is a narrowing of the

aortic lumen, leading to

outflow obstruction
03/21/25 58