Cardiac Congenital

Disease
Broadly, congenital cardiovascular anomalies can be clinically divided into:
• Acyanotic Congenital Heart Disease
• Cyanotic Congenital Heart Disease
Depending on the lesion and its severity, patients may be asymptomatic or
conversely, may present with rapidly deteriorating congestive cardiac failure.
 • INCREASED PULMONARY VASCULARITY
• Ventricular septal defect (VSD)
• Atrial Septal Defect (Asd)
• Atrioventricular Septal Defect (Avsd)
Acyanotic • Patent Ductus Arteriosus (Pda)

CHD • NORMAL PULMONARY VASCULARITY

• Aortic valve stenosis
• Aortic coarctation
• Pulmonary stenosis
 • Increased Pulmonary Vascularity
• Total Anomalous Pulmonary Venous R
eturn (
Tapvr) (Types I And Ii)

Cyanotic • Transposition Of The Great Arteries (

Tga)

CHD • Truncus Arteriosus (Types I, II, And III)

• Decreased Pulmonary Vascularity
• Tetralogy Of Fallot
• Ebstein Anomaly With 
Atrial Septal Defect
Atrial septal defect
• Most common cardiac defect found in adulthood.
• Characterized by a defect in the interatrial septum allowing pulmonary venous
return from left atrium to pass directly to right atrium.
• Spectrum of the disease depending on the size of the shunt.
• Atrial septal defect (ASD) is a congenital cardiac disorder caused by the spontaneous
malformation of the interatrial septum. Note the following types of ASD:
• Ostium secundum ASD (75%)
• Ostium primum ASD (15-20%)
• Sinus venosus ASD (5-10%)
• Coronary sinus ASD
• Genetics
• Holt-Oram Syndrome
• Ellis van Creveld Syndrome
• Mutation in Cardiac transcription factor NKC2.5 & Variants in GATA4 gene
• Extracellular signal molecules VEGFA and BMP10
• Cardiac sarcomeric proteins MYL2, MYL3, MYH7, TNNT1, and TNNT3
Plain radiograph
• Can be normal in early stages when the atrial septal defect is small signs of
increased pulmonary flow (pulmonary plethora or shunt vascularity) enlarged
pulmonary vessels upper zone vascular prominence vessels visible to the
periphery of the film eventual signs of pulmonary arterial hypertension
• chamber enlargement
• right atrium
• right ventricle
• note: left atrium is normal in size unlike VSD or PDA
• note: aortic arch is small to normal
• There is bilateral increased pulmonary
vascularity and prominence of the atrial
appendage.
• The heart size is within normal limits.
• No rib or soft tissue abnormality. The
radiological features are compatible with
the known diagnosis of an atrial septal
defect (ASD).
 Atrial septal defect. Frontal (left) and lateral (right) views. Pulmonary arterial
overcirculation is shown by large hilar and segmental pulmonary arteries. The
absence of left atrial enlargement, indicated by no impression on the barium-filled
esophagus, is characteristic for an atrial-level shunt.
Echocardiogram
• Parasternal short axis: RV dilation with RV
pressure overload as evidenced by
flattening of the interventricular septum in
systole

• Transesophageal echocardiogram:
Moderate-large ASD with left-to-right shunt
across the interatrial septum.
VSD
• Ventricular Septal Defects (VSD) represent defects in the interventricular septum
that allow a hemodynamic communication between the right and left ventricles.
It typically results in a left-to-right shunt.
VSD
• Ventricular septal defect.
Frontal (left) and lateral
(right) views. Pulmonary
arterial overcirculation is
evidenced by shunt vessels
and prominent hilar vessels.
Heart size is increased in
proportion to overcirculation.
Left atrial enlargement
produces impression on and
displacement of the barium-
filled esophagus, as shown on
the lateral view.
 • An atrioventricular septal defect (AVSD) is a
heart defect in which there are holes between
Atriventricula the chambers of the right and left sides of the
heart, and the valves that control the flow of
r Septal blood between these chambers may not be
Defect formed correctly.
• Complete AVSD
(AVSD) • Partial or Incomplete AVSD
• Ventricular septal defects. Large-volume
left-to-right shunt causing pulmonary
edema, severe pulmonary arterial
overcirculation, and cardiomegaly.
Indistinct hilar and segmental arteries on
the right side are caused by interstitial
edema.
PDA
•Patent ductus arteriosus. Note pulmonary
arterial overcirculation and cardiomegaly.
Pulmonary arterial overcirculation is
indicated by prominent hilar vessels. There is
a left atrial double density (arrow) and
enlarged aortic arch.
PDA

• Patent ductus arteriosus. Frontal

(left) and lateral (right) views.
Note pulmonary arterial
overcirculation and
cardiomegaly. The prominent
aortic arch (arrow) and
descending aorta are diagnostic
signs of patent ductus
arteriosus. On the lateral view,
the enlarged left atrium causes
posterior displacement of the
left bronchus (arrowhead).
AORTIC VALVE STENOSIS
• Variable appearance on chest radiographs
depending on stage and severity of the disease 2,5. 
• In early disease, the chest radiograph can be entirely
normal or it may show 
dilatation of the ascending aorta with a normal
heart size. Differentiation with hypertension can
usually be made as in hypertension the entire
descending aorta is enlarged 2,5.
• However, late in the disease, the chest radiograph
may reveal valvular calcifications (if valvular aortic
stenosis) and/or cardiomegaly with features of 
heart failure, such as pulmonary venous congestion
 and pulmonary interstitial/alveolar edema 2,5. At this
stage, especially in the absence of valvular
calcifications, it is not possible to differentiate aortic
stenosis from other causes of heart failure 2,5. 
Chest x-ray shows prominent of the right mediastinal
border occupied by the ascending aorta. The
descending aorta is unfolded but of normal caliber.
Heart size is normal. No lung or pleural abnormality.
COARCATION AORTA
Roesler Sign
Pulmonary
Stenosis
• Right ventricular enlargement
• Right atrial enlargement
• Prominent pulmonary trunk
• Enlargement of the left pulmonary artery: in
valvular stenosis, the systolic jet of blood passing
through the stenosed valve preferentially enters
the left pulmonary artery, causing post stenotic
dilatation
• Chen sign: vascular fullness at the left lung base
more-so than the right lung base due to
preferential flow of turbulent jet into the left
pulmonary artery
• Rarely, calcifications of the pulmonary valve may
be seen
• Features of congestive heart failure may also be
present
Total anomalous pulmonary venous return
(TAPVR)
• Is a cyanotic congenital heart anomaly with abnormal drainage anatomy of the entire
pulmonary venous system. This contrasts with partial anomalous pulmonary venous
return (PAPVR) where only part of the pulmonary venous anatomy is abnormal.
• The right heart is prominent in TAPVR because of the increased flow volume, but the left
atrium remains normal in size. Types I and II result in cardiomegaly.
• The supra cardiac variant (type I) can classically depict a snowman appearance on a
frontal chest radiograph, also known as figure of 8 heart or cottage loaf heart 2,3. The
dilated vertical vein on the left, brachiocephalic vein on top, and the superior vena cava
on the right form the head of the snowman; the body of the snowman is formed by the
enlarged right atrium.
Snowman appearance
 • Also known as transposition of the great vessels
(TGV) is the most common cyanotic congenital
cardiac anomaly presenting during the newborn
period, with cyanosis in the first 24 hours of life. It
TGA accounts for up to 7% of all congenital cardiac
anomalies 1 and can be assessed with
(Transposition echocardiography, gated cardiac CT, or cardiac MRI.
• A frontal chest radiograph classically shows
of the great cardiomegaly with cardiac contours classically
described as appearing like an egg on string 1. There
arteries) is often an apparent narrowing of the superior
mediastinum as the result of the aortic and
pulmonary arterial configuration, i.e. parallel in D-
loop transposition, with the main pulmonary artery
posterior to the aorta.
Egg on a string
TRUNCUS
ARTERIOSUS
• Chest radiographs often show moderate 
cardiomegaly with pulmonary plethora (mainly as
a result of collateral formation) and widened
mediastinum.
• However, the main pulmonary artery (arising from
common trunk) may be small/unusual in position
which may result in a narrow mediastinum. This
along with moderate cardiomegaly and pulmonary
plethora gives an appearance that is similar to D-
loop transposition of great arteries 9.
• Right-sided aortic arch may be seen in ~40%
(range 35-50%) of cases 
Tetralogy of Fallot
• Tetralogy of Fallot. Note decreased
pulmonary vascularity without cardiomegaly.
The main pulmonary arterial segment is
concave and the hilar vessels are small. The
apex is situated high above the diaphragm.
 • Findings on chest
radiographs largely depend
on the severity of the
abnormality and the degree
to which the tricuspid valve
is displaced downwards.
• There is often severe right-
sided cardiomegaly due to
an elongated and enlarged
right atrium which may
result in an elevated apex.
• Classically, the heart is
described as having a 
"box shape" on a frontal
chest radiograph. 
Ebstein Anomaly