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Congenital
cardiovascular
anomalies



(PRMBLEDHJE ARTIKUJSH NGA RADIOPAEDIA.ORG)






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Congenital cardiovascular anomalies
ventricular septal defect (VSD): 40% f.3
atrial septal defect (ASD): 10%...............................................f.11
congenital pulmonary stenosis: 8 %........................................f.34
patent ductus arteriosus (PDA): 7%.......................................f.39
transposition of the great arteries (TGA): 7%......................f.43
tetralogy of Fallot (TOF): 5%..................................................f.51
coarctation of the aorta: 5%.....................................................f.64
atrioventricular septal defect (AVSD): 4%.............................f.78
congenital aortic stenosis: 4%..................................................f.85
hypoplastic left heart syndrome (HLHS): 4%........................f.87
double outlet right ventricle (DORV): 2%..............................f.90
interrupted aortic arch (IAA): 1.5%.......................................f.92
truncus arteriosus: 1%.............................................................f.94
total anomalous pulmonary venous return (TAPVR): 1%.f.99
tricuspid atresia: 1%...............................................................f.106
pulmonary atresia: ?...............................................................f.107
Ebstein anomaly: 0.7%...........................................................f.110
Bland-White-Garland syndrome: ~0.5%..............................f.118
cor triatriatum: ~0.1%............................................................f.122
partial anomalous pulmonary venous return (PAPVR): ...f.124
double outlet left ventricle (DOLV): f.129
bicuspid aortic valve..........................................................f.131
quadricuspid aortic valve...................................................f.134
cyanotic congenital heart disease.......................f.139
acyanotic congenital heart disease......................................f.141
o congenital heart disease - chest x-ray approach.....................f.136




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Ventricular septal defect
Dr Ayush Goel and Dr Yuranga Weerakkody et al.
Ventricular septal defects (VSD) represent defects in the interventricular septum that allow a
haemodynamic communication between the right and left ventricles. It typically results in a left
to right shunt.
Epidemiology
They represent one of the most common congenital cardiac anomalies and may be associated
with up to 40% of such anomalies
1
. They are considered the most common congenital cardiac
abnormality diagnosed in children and the second most common diagnosed in adults
9
. The
estimated incidence is at ~1 in 400 births
6
.
Pathology
Classification according to location
membranous/perimembranous (most common: 80-90%)
inlet/inflow
outlet/subarterial
muscular/trabecular
Associations
A VSD can occur on its own but frequently tends to occur with other cardiovascular
associations:
cardiovascular associations
o tetralogy of Fallot
o truncus arteriosus
o double outlet right ventricle: including Taussig-Bing malformation
o aortic coarctation
o tricuspid atresia
o aortic regurgitation
o pulmonary stenosis
extra cardiac associations
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o aneuploidic/chromosomal anomalies
trisomy 21
trisomy 18
trisomy 13
o other syndromic anomalies: there are several and include
Holt-Oram syndrome
Radiographic features
Plain film
The chest radiograph can be normal with a small VSD. Larger VSDs may show cardiomegaly
(particularly left atrial enlargement although the right and left ventricle can also be enlarged). A
large VSD may also show features of pulmonary oedema, pleural effusion and/or increased
pulmonary vascular markings.
Ultrasound: echocardiography
Allows direct visualisation of the septal defect which can be easily seen in the four chamber
view. A perimembranous VSD can seen as a septal dropout in the area adjacent to the tricuspid
septal leaflet and below the right border of the aortic annulus. Small isolated VSD's can be
difficult to detect prenatally.
CT
Allows direct visualisation of the defect on contrast CT.
MRI
May also show added functional information (e.g. quantifiation/shunt severity) in addition to
anatomy. Some muscular defects can give a "Swiss cheese" appearance owing to their
complexity.
Complications
Eisenmenger phenomenon with shunt reversal (i.e. L to R becomes R to L)
cardiac failure
Prognosis
The prognosis is good for small VSDs which show a high spontaneous intra-uterine or post-natal
closure rate. VSD's usually do not cause any haemodynamic compromise in utero due to right
and left ventricular pressures being very similar during that period.

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VSD View of the right side of
the heart with numerous VSDs. View of the right side of the heart with numerous VSDs. Original file:
http://commons.wikimedia.org/wiki/File:Heart_right_vsd.jpg
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From the case: Ventricular septal defect
Modality: X-ray
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From the case: Ventricular septal defect
Modality: X-ray
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From the case: Ventricular septal defect - small
Modality: X-ray
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From the case: VSD
Modality: X-ray





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Imaging Differential Diagnosis
From the case: Ebstein anomaly
Modality: X-ray



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Atrial septal defect
Dr Ayush Goel and Dr Frank Gaillard et al.
Atrial septal defects (ASD) are the second most common congenital heart defect after VSD and
the most common to become symptomatic in adulthood.
They are characterised by an abnormal opening in the atrial septum allowing communication
between the right and left atria. Due to the low pressures of the atria the lesion is typically
asymptomatic until adulthood despite 2-4 times the normal pulmonary blood flow. Gradual (high
output) congestive cardiac failure eventually develops, usually becoming symptomatic by the age
of 30.
Epidemiology
ASD accounts for ~10% of congenital heart disease
7
. There may be greater female predilection.
Clinical presentation
Most patients are asymptomatic but as cardiac failure develops they may present with shortness
of breath, palpitations and/or weakness
7
.
Pathology
Classification
There are four major types of ASD
4
, distinguished according to their location within the septum:
secundum ASD
o 60-90% of all ASDs
o usually an isolated abnormality
primum ASD
o 5-20%
o associated with cleft anterior mitral valve leaflet (partial atrioventricular septal
defect)
sinus venosus
o 5%
o associated with anomalous right pulmonary venous return to the superior vena
cava or right atrium
coronary sinus type ASD
o <1%
Associations
ASDs usually tend to be isolated anomalies, associations include:
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Down syndrome (ostium primum defect)
Holt Oram syndrome
Ellis van Creveld syndrome
mitral valve prolapse
Lutembacher syndrome
anomalous pulmonary venous return (especially with sinus venosus defects)
o total anomalous pulmonary venous return (TAPVR)
o partial anomalous pulmonary venous return (PAPVR)
A patent foramen ovale (PFO) is a form of atrial septal defect.
Radiographic features
Plain film (CXR)
can be normal is early stages +/- when the ASD is small
signs of increased pulmonary flow (shunt vascularity)
o enlarged pulmonary vessels
o upper zone vascular prominence
o vessels visible to the periphery of the film
o eventual signs of pulmonary arterial hypertension
chamber enlargement
o right atrium
o right ventricle
o note: left atrium is normal in size
o note: aortic arch is small to normal
Complications
In approximately 10% of patients pulmonary hypertension develops. In this situation flow
through the shunt eventually reverses and becomes right to left. The patient then becomes
cyanotic. This is known as the Eisenmenger syndrome.
Other complications include:
paradoxical emboli
cardiac conduction defects, e.g. atrial fibrillation, flutter.
Treatment and prognosis
ASDs do not cause any impairment in cardiac function in utero and even most neonates are
asymptomatic. Either a surgical closure or a percutaneous closure with an Amplatzer closure
device can often performed. But careful evaluation has to be made to ensure lack of development
of elevated right heart pressures or a right to left shunt prior to any intervention.

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ASD (right heart view) Right
heart view with example atrial septal defects (ASD)Image created by Patrick J. Lynch, and distributed
under Creative Commons Attribution 2.5 license.Original file available at:
http://commons.wikimedia.org/wiki/File:Heart_right_asd.jpg
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From the case: Atrial
septal defect (ASD)
Modality: X-ray
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From the case:
Atrial septal defect (ASD)
Modality: X-ray
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From the case: Atrial septal defect
Modality: X-ray
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From the case: Atrial septal defect
Modality: X-ray
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From the case: ASD closure device
Modality: X-ra
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From the case: Atrial septal defect closure device
Modality: X-ray
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From the case: Atrial septal defect closure device
Modality: X-ray
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From the case: Atrial septal defect closure device
Modality: X-ray
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From the case:
Atrial septal defect closure device
Modality: X-ray
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Atrial septal defect closure Chest
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Atrial septal defect
closure Chest
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From the case: Atrial septal defect
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From the case: Atrial septal defect
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From the case: Atrial septal defect
Modality: X-ray
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From the case: Atrial septal defect
Modality: X-ray
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From the case:
Atrial septal defect
Modality: X-ray



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Congenital pulmonary stenosis
Dr Tim Luijkx and Dr Yuranga Weerakkody et al.
Congenital pulmonary stenosis (CPS) refers to congenital narrowing of the right ventricular
outflow tract, pulmonary valve or pulmonary artery.
Epidemiology
The estimated incidence is 1 in 2000 births.
Pathology
Can be morphologically categorised depending on the relationship to the pulmonary valve
3

supra valvular: distal to the valve: commonest ~60%
4

valvular
sub valvular: infundibular
Sub classification
Supra-valvular stenoses have been traditionally classified in to four types.
Associations
Generally occurs as an isolated feature and associations are rare
3
. They include:
Noonan syndrome
Williams syndrome (supravalvular)
tetralogy of Fallot
in utero rubella exposure
Down syndrome
Ehlers Danlos syndrome
22q deletion syndrome
Radiographic features
Chest radiograph
Non specific. Can have a normal heart size or may show evidence of right ventricular
hypertrophy. May also show evidence of a dilated pulmonary trunk or a main pulmonary artery.
CT/CTA
Direct visualisation of stenotic segment +/- post stenotic dilatation of distal arterial segments.
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MRI/MRA
Direct visualisation of stenotic segment +/- associated features. Velocity encoded phase contrast
(VEC) cine sequences can assist assessing the severity of the stenosis by allowing measurement
of blood flow velocities and volumes
2
.
Ultrasound
Doppler ultrasound/echocardiography
May show a high flow jet with turbulent flow through the pulmonary valve or narrowed segment.
From the case: Pulmonary valve stenosis
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Modality: X-ray
From the case: Pulmonary valve stenosis
Modality: X-ray
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From the case: Subvalvular pulmonary stenosis
Modality: CT
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Patent ductus arteriosus
Dr Aditya Shetty and Dr Yuranga Weerakkody et al.
Patent ductus arteriosus (PDA) is a congenital cardiac anomaly where there is persistent
patency of the ductus arteriosus, a normal connection of the fetal circulation between the aorta
and the pulmonary arterial system that develops from the 6
th
aortic arch.
The ductus is a necessity in utero but usually undergoes functional closure 48 hours after birth.
Patency of the ductus may be isolated or associated with other cardiac anomalies. In some
circumstances, it is necessary to prolong life in patients with severe structural heart disease in
whom a normal systemic circulation would be incompatible with life:
tetralogy of Fallot
Eisenmenger syndrome
hypoplastic left heart
pulmonary atresia
Clinical features
A large PDA classically gives a loud continuous machine-like murmur.
Non cardiac associations
prematurity
surfactant deficiency
trisomy 18
trisomy 21
rubella
Radiographic features
Plain film
Chest radiographic features may vary depending on whether it is isolated or associated with other
cardiac anomalies and with direction of shunt flow (right to left or left to right). Can have
cardiomegaly (predominantly left atrial and left ventricular enlargement if not complicated).
Obscuration of the aortopulmonary window and features of pulmonary oedema may be evident.
CT
MDCT can non-invasively provide detailed anatomical information
1
.
Krichenko classification based on CT angiography
type A: conical ductus,prominent aortic ampulla with narrowing at pulmonary artery end
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type B: window, short and wide ductus with blending of pulmonary artery
type C: long tubular ductus with no constrictions
type D: multiple constrictions with complex ductus
type E: elongated ductus with remote constriction
Echocardiography - ultrasound
Direct visualisation of PDA. Colour doppler can provide information of direction of flow.
Complications
Eisenmenger phenomenon
Management
medical
o prostaglandin E1 - to keep ductus open
o indomethacin - to close ductus
endovascular
o various closure devices
surgical
o clipping or ligation to close
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Patent ductus arteriosus
Anterior view of the heart demonstrating a patent ductus arteriosus with relationship to left vagus nerve
and recurrent laryngeal nerve.Original file:
http://commons.wikimedia.org/wiki/File:Heart_patent_ductus_arteriosus.jpg
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From the case: Patent ductus arteriosus closure device
Modality: X-ray



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Transposition of the great arteries
Dr Yuranga Weerakkody et al.
Transposition of the great arteries (TGA) is the most common cyanotic congenital cardiac
anomaly with cyanosis in first 24 hours of life and can account for up to 7% of all congenital
cardiac anomalies
1
.
Epidemiology
The estimated incidence is at ~1 in 5000 births. Transposition of the great arteries is an isolated
abnormality in 90% of those affected and rarely is associated with a syndrome or an extra-
cardiac malformation. It is most common in infants of diabetic mothers
1
.
Pathology
Occurs as a result of ventriculo-atrial discordance with the aorta arising from the right ventricle
and the pulmonary trunk from the left ventricle. It can be sub divided into two main
types depending on the positional relationship of the aortic valve with the pulmonary valve.
L type transposition of the great arteries-congenitally corrected TGA
D type transposition of the great arteries
The article mainly focuses on the D type transposition.
An isolated TGA is incompatible with life at birth without one of the following additional
anomalies (which are a common occurrence
2
).
atrial septal defect (ASD): uncommon
ventricular septal defect (VSD): ~35%
patent ductus arteriosus (PDA): unstable due closure following birth
patent foramen ovale (PFO): unstable
Unstable associations account for 60-65% of occurrences.
Associations
Approximately 90% of TGA's occur as an isolated finding and extra cardiac syndromic
associations are generally rare. associations have been described with
maternal diabetes
congential coronary arterial anomalies
Radiographic features
Plain film
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A frontal chest radiograph classically shows cardiomegaly with a cardiac contours classically
described as appearing like an egg on a string
1
. There is often an apparent narrowing of the
superior mediastinum as result of the aortic and pulmonary arterial configuration.
Echocardiography/ultrasound
Allows direct visualization of anomalous anatomy with the aorta and pulmonary trunk lying in
parallel with absence of crossing (best seen on the base view of the fetal heart)
4
.
Contrast CT/CTA
Allows direct visualisation of anomalous great vessel anatomy. Cardiac gated cine CT can
additionally assess function.
Cardiac MRI
Allows direct visualisation of anomlaous anatomy. SSFP cine sequences can additionally assess
flow dynamics.
Treatment
Initially TGAs were treated with atrial switch operations, such as a Mustard repair or Senning
repair, which have been superseded by arterial switch procedures
5
.
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From the case: TGA and Mustard repair
Modality: X-ray
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From the case: TGA and Mustard repair
Modality: X-ray
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From the
case: Transposition of great arteries
Modality: X-ray
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From the case:
Transposition of great arteries
Modality: X-ray
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D-
TGA with VSD
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From the case: Transposition of great arteries (TGA)
Modality: X-ray



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Tetralogy of Fallot
Dr Ayush Goel and Dr Yuranga Weerakkody et al.
Tetralogy of Fallot (TOF) is one of the most common cyanotic congenital heart conditions
1,5

and continues to be a major source of morbidity.
Epidemiology
This anomaly accounts for 10% of all congenital heart disease and has an estimated prevalence
of 1 in 2000 births
10
.
Clinical presentation
Presentation is dictated by the degree of right ventricular outflow tract obstruction (RVOTO).
Typically this is significant, resulting in cyanosis evident in the neonatal period, as a result of the
right to left shunt across the VSD. In cases where outflow obstruction is minimal, cyanosis may
be inapparent (pink tetralogy) resulting in delayed presentation, even into adulthood, although
this is rare.
Pathophysiology
Tetralogy of Fallot is classically characterised by four features which are:
1. ventricular septal defect (VSD)
o may be multiple in ~5% of cases
6

2. right ventricular outlfow tract obstruction (RVOTO) due to:
o infundibular stenosis, or
o hypoplastic pulmonary valve annulus, or
o bicuspid pulmonary valve, and/or
o hypoplasia of pulmonary artery
3. over riding aorta
4. right ventricular hypertrophy: only develops after birth
The right ventricular hypertrophy is a result of the VSD and right ventricular outlet obstruction,
both contributing to elevated resistance to right heart emptying
6
.
Genetics
In approximately 15% of cases it is associated with a deletion on chromosome 21q11
6-7
.
Associations
cardiovascular associations
o right sided aortic arch: seen in ~25% of cases
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o pulmonary hypoplasia +/- atresia: particularly important in determining treatment
8
, when there is pulmonary atresia it is sometimes termed pseudotruncus
arteriosus
9

o atrial septal defect (ASD) or patent ductus arteriosus (PDA) (termed pentalogy of
Fallot)
o coronary artery anomalies: seen in 3% of cases
6

o persistent left sided superior vena cava
extra cardiovascular associations: may be present in ~ 16% of cases
10

o congenital lobar emphysema
o DiGeorge syndrome
o fetal rubella syndrome
o prune belly syndrome
Radiographic features
Plain film
Plain films may classically show a "boot shaped" heart with an upturned cardiac apex due to
right ventricular hypertrophy and concave pulmonary arterial segment. Most infants with TOF
however may not show this finding
2
.
Pulmonary oligaemia due to decreased pulmonary arterial flow. Right sided aortic arch is seen in
25%.
MRI
MRI has the great advantage of providing both exquisite anatomical details and functional
information without ionising radiation. Detailed assessment of the pulmonary artery is
particularly important because repair of the cardiac defects without addressing pulmonary artery
hypoplasia/stenosis has a poor outcome
8
.
The main pulmonary artery or right pulmonary artery diameter should be compared to that of the
ascending aorta. A ratio of <0.3 usually signifies that primary repair would be unsuccessful and a
bridging shunt operation may be of benefit
8
.
Assessment of coronary artery origin is also essential to surgical planning.
Treatment and prognosis
Appoximately 90% of untreated tetralogy patients succumb by the age of 10 years
6
. Over the
years many surgical approaches were performed, until current primary repair was developed.
Shunts are now days only performed as a palliative procedure in inoperable cases or to bridge
patients until repair can be carried out, typically in the setting of pulmonary arterial hypoplasia
8
.
Shunt operations included
6
:
shunts: designed to reduce cyanosis
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Pott shunt
Waterston shunt
Blalock-Taussig shunt: still performed in selected cases
Primary repair is now the preferred treatment and is usually performed at the time of diagnosis.
Common post-surgical complications include
6
:
conduction abnormalities
o right bundle branch block (RBBB): 80-90% of cases
o bifasicular block: 15% of cases
o premature ventricular contractions: ~50% of cases
o sustained ventricular tachycardias: ~5% of cases
o atrial arrhythmias: common
valvular dysfunction
o tricuspid regurgitation
o pulmonary regurgitation
Prognosis is largely dependent on how soon the defect is diagnosed and corrected, with the best
outcome seen in patients repaired before the age of 5
6
. Overall there is a 90-95% survival rate at
10 years of age, however residual right ventricular dysfunction is common. Up to 10% of
patients require re-operation within 20 years
6
.
Historical context
It is named after Etienne-Louis Arthur Fallot - French physician (1850-1911)
Differential diagnosis
Findings on a chest x-ray are non-specific and other cyanotic congenital heart diseases should be
considered.

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From the case: Tetralogy of Fallot - diagram
Modality: Diagram
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From the case: Tetralogy of Fallot
Modality: X-ray
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From the case: Tetralogy of Fallot
Modality: X-ray
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Tetralogy of Fallot: 10 weeks old
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Tetralogy of Fallot: 10 weeks old
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From the case: Coeur en sabot
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From
the case: Tetralogy of Fallot
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From the case: Tetralogy of Fallot
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From the
case: Stent within RVOT conduit
Modality: X-ray
Case 7: corrected with RVOT stent


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Coarctation of the aorta
Dr Aditya Shetty and Dr Frank Gaillard et al.
Coarctation of the aorta refers to a narrowing of the aortic lumen. It can be primarily divided
into two types:
1. infantile (pre-ductal) form
2. adult (juxta-ductal, post-ductal or middle aortic) form
Infantile coarctation is characterised by diffuse hypoplasia or narrowing of the aorta from just
distal to brachiocephalic artery to the level of ductus arteriosus, typically with a more discrete
area of constriction just proximal to the ductus but distal to the origin of the left subclavian
artery. Therefore the blood supply to the descending aorta is via the patent ductus arteriosus.
Adult coarctation in contrast is characterised by a short segment abrupt stenosis of the post-
ductal aorta. It is due to thickening of the aortic media and typically occurs just distal to the
ligamentum arteriosum (remnant of the ductus arteriosus).
Epidemiology
Coarctations account for between 5-8% of all congenital heart defects. They are more frequent in
males, M:F ratio of ~2-3:1.
Pathology
Associations
As is the case with many congenital abnormalities, coarctation of the aorta is associated with
other anomalies.
cardiac: coarctations are frequently associated with other congenital heart defects and
conditions which include:
o bicuspid aortic valve: most common associated defect and seen in 75-80%
o ventricular septal defect (VSD)
o cyanotic congenital lesions including:
truncus arteriosus
transposition of the great arteries (TGA), especially with a sub-pulmonic
VSD and overriding pulmonary artery (Taussig-Bing)
o mitral valve defects including:
hypoplastic mitral valve
parachute mitral valve
abnormal papillary muscles
there can also be non cardiac associations such as:
o intracranial berry aneurysms
Page | 65

o spinal scoliosis
recognised syndromic associations include:
o cardiac:
Shone syndrome
o wider syndromic:
PHACE syndrome
Turner syndrome: a coarctation can be seen in 15-20% of those with
Turner syndrome
Radiographic features
Plain film: chest radiograph
figure of 3 sign: contour abnormality of the aorta
inferior rib notching: Roesler sign
o secondary to dilated intercostal collateral vessels
o seen only in long standing cases, and therefore not seen in infancy
o seen in 70% of cases presenting in older children or adults
o if unilaterally seen on the left, then this suggests an associated aberrant right
subclavian artery arising after the coarctation
o if unilaterally seen on the right, then the origin of the left subclavian artery is
distal to the coarctation
o most often involves 4
th
-8
th
ribs
o occasionally involves 3
rd
and 9
th
ribs
o does not involve 1
st
and 2
nd
ribs (the associated arteries are branches of the
costocervical trunk, and thus proximal to coarctation)
may also show evidence of left ventricular hypertrophy
Antenatal ultrasound
Useful in assessing for infantile coarctations. The suprasternal notch-long axis views are
particularly considered helpful. The fetal right ventricle can be appear enlarged in severe
coarctations although this alone is not a specific feature. Occasionally an aortic arch view may
directly show a narrowing.
Angiography: CTA/MRA/DSA
All modalities are capable of delineating the coarctation as well as collateral vessels, most
common collateral pathway being subclavian artery to internal mammary artery to intercostal
arteries (resulting in inferior rib notching) to post-coarctation part of descending thoracic aorta.
Treatment and prognosis
Urgency of treatment depends on the presence of congestive cardiac failure. This is usually the
case in severe coarctations found in infancy. In less severe cases, elective treatment when the
child is older (typically ~2 years of age) is preferred
3
.
Page | 66

Treatment can be either primary surgical repair with excision of the coarctation and end-to-end
anastomosis, or balloon angioplasty.
Complications
neonatal heart failure
subarachnoid haemorrhage from ruptured berry aneurysm
aortic dissection
infective endocarditis: in the context of an added infective insult
mycotic aneurysm: in the context of an added infective insult
Differential diagnosis
pseudo-coarctation of the aorta: elongation, narrowing or kinking with no pressure
gradient or collateral formation, no rib notching
chronic large vessel arteritis, e.g. chronic phase of Takayasu arteritis

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From the case: Coarctation of the aorta, figure of 3 sign
Modality: X-ray
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From the case: Coarctation of the aorta, figure of 3 sign
Modality: X-ray
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From the case: Coarctation of the aorta
Modality: X-ray
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From the case: Coarctation of the aorta
Modality: X-ray
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From the case: Coarctation of the aorta
Modality: X-ray
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Bilateral
inferior rib notchingFrom the case: Coarctation of the aorta
Modality: X-ray

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From the case: Coarctation of the aorta
Modality: X-ray
Page | 76

oarctation of aorta
Page | 77

Coarctation of the aorta Volume rendering




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Atrioventricular septal defect
Dr Aditya Shetty and Dr Yuranga Weerakkody et al.
Atrioventricular septal defects (AVSDs) comprise of a relatively wide range of defects
involving the atrial septum, ventricular septum and one or both of the tricuspid or mitral valve.
They can represent 2-7% of congenital heart defects.
Epidemiology
The estimated prevalence is at ~3-4 in 10,000 births.
Pathology
It results from deficient development of the apical portion or the atrial septum, basal portion of
the inter-ventricular septum as well as atrio-ventricular valves. All four chambers of the heart
communicate therefore both left to right and right to left shunts can occur.
Classification
Many have been used but can be broadly divided into:
complete
incomplete
Associations
Down syndrome-trisomy 21: may be present in up to 50% of cases
4

trisomy 18: may be present in up to 25 % of cases
ref

Ivermark syndrome: may be present in up to 10% of cases
4

Radiographic features
Plain film
Plain film features are often not specific but may show have cardiomegaly +/- features of
pulmonary hypertension and mitral valve insufficiency.
Echocardiography
Allows direct visualisation of the defect spectrum and often a large defect of the midline heart
structures are seen. Colour Doppler often aids in further visualisation of the central opening.
Angiography
An AVSD can give a classical "Gooseneck" sign on a lateral left ventricular angiogram
3
.
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MRI
Allows direct visualisation of defect spectrum. Can be superior in assessing cardiac chamber
dimensions and to assess the presence/extent of ventricular hypoplasia which is a determinant of
surgical risk.
From the case: AVSD
Modality: X-ray
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From the case: AVSD
Modality: X-ray
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From the case: AVSD
Modality: X-ray
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From the case: AVSD in infant
Modality: X-ray




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Imaging Differential Diagnosis
From the case: Ventricular septal defect
Modality: X-ray
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From the case: Ventricular septal defect
Modality: X-ray



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Congenital aortic stenosis
Dr Yuranga Weerakkody et al.
A congenital aortic stenosis broadly refers to a congenital narrowing of the aortic lumen.
Although the term can mean narrowing at any point it often refers to a narrowing about the aortic
valve. As a broad group there can be some overlap with ascending aortic coarctation depending
of the definition used.
Depending on location it can be classified into 3 types.
1. supravalvular stenosis
2. congenital aortic valve stenosis (commonest)
3. subvalvular stenosis
Associations
Williams syndrome : with supravalvular type
bicuspid aortic valve
2,4

aortic coarctation
hypoplastic left heart
quadricuspid aortic valve
4

Radiographic features
Chest radiograph
Can be normal. May show evidence of cardiomegaly
CT / MRI
Apart from showing a narrowed valve annulus and/or narrowing cross sectional aortic segment it
may also show
cardiomegaly with left ventricular hypertrophy
post stenotic dilated segment of the aortic lumen
In MR imaging, velocity encoded phase contrast cine sequences can assist assessing the severity
of the stenosis by allowing measurement of blood flow velocities and volumes
2

Doppler ultrasound / echocardiography
May show a high flow jet through the aortic valve or narrowed segment
Page | 86

fibrous membrane under aortic valve. fibrous membrane under aortic valve, originating from septum
and partially obstructing LVOT







Page | 87

Hypoplastic left heart syndrome
Dr Yuranga Weerakkody et al.
Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where
affected individuals can have profound cyanosis and cardiac failure.
It is one of the commonest causes for a neonate to present with congestive cardiac failure and the
4
th
commonest cardiac anomaly to manifest within the 1
st
year of life
1
. The presence of
an ASD and/or persistent patent foramen ovale (PFO) is crucial in residual cardiac function
1
. It
is fatal if untreated.
Epidemiology
This anomaly is thought to represent 2-4% congenital cardiac anomalies
3
. There is a recognised
male predilection. The estimated incidence is ~ 1 in 10 000 births
6
.
Pathology
HLHS results from under development of left heart structures inclusive of
5

left ventricle
mitral valve: stenosis/atresia
aortic valve: atresia/hypoplasia
ascending aortic root/arch
Associations
localised concurrent aortic coarctation (can be association in a majority of cases)
endocardial fibroelastosis
Radiographic features
Plain film
the overall cardiac silhouette may be small, normal or enlarged
1

may also show evidence of pulmonary venous congestion
the right atrial border may be prominent
Antenatal ultrasound - fetal echocardiography
The four chamber view is particularly helpful in initial in-utero assessment. May show a small
ascending aorta, and a small but thick walled left ventricle while the right heart chambers may
appear enlarged. The movement of the mitral valve may also appear significantly impaired.
CT/CT angiography
Page | 88

Allows direct visualisation of anomaly and vessel anatomy
2
. Right sided cardiac structures
inclusive of the right ventricle, right atrium and pulmonary trunk are often enlarged as a result of
compensatory effect.
Cardiac MRI
Allows direct visualisation of anatomy while SSFP sequences may give added dynamic
assessment.
Treatment and prognosis
HLHS can be well tolerated in-utero due to the fetal right ventricle being the dominant chamber
the ductus arteriosus being patent.
While previously uniformly fatal post-natally, the outlook has somewhat improved with new
surgical strategies which include:
Norwood procedure: most commonly performed initial

palliative procedure in neonatal
period
5

bidirectional

cavopulmonary anastomosis (BDCPA) or hemi-Fontan procedure
cardiac transplantation
Prostaglandin E
1
may be given as an initial management option to keep the ductus open.
Differential diagnosis
General considerations include
infantile aortic coarctation (can also be an association)
interrupted aortic arch: consider as a differential on a four chamber fetal echocardiogram
for the dilated fetal right ventricle

Page | 89

From the case: Patau syndrome
Modality: Ultrasound





Page | 90

Double outlet right ventricle
Dr Henry Knipe and Dr Yuranga Weerakkody et al.
Double outlet right ventricle (DORV) is a congenital cardiac anomaly where both the aorta and
pulmonary trunk arise from the morphological right ventricle. It is reported to account for ~2%
of congenital cardiac defects
1
. It is usually classed as a conotruncal anomaly. There is almost
always a concurrent VSD
4
.
Epidemiology
The estimated incidence is at ~1:10,000 births.
Pathology
Genetics
Most cases are thought to have a sporadic occurrence.
Sub types
Three main forms are recognised
5

side by side positioning of great vessels
right sided malpositioning of great vessels
left sided malpositioning of great vessels
Associations
aneuploidic/chromosomal
o trisomy 13
1

o trisomy 18
1

cardiovascular/pulmonary
o congenital pulmonary stenosis
o coarctation of the aorta
o right sided aortic arch
o anomalous pulmonary venous return
other
o tracheo-oesophageal fistula
5

Radiographic features
Plain film
Appearances are variable depending on the sub classification and presence of concurrent other
anomalies. May show evidence of right ventricular enlargement.
Page | 91

Ultrasound
On echocardiography, there is typically a lack of communication between the posterior aortic
root and the anterior mitral valve leaflet
CT/MRI
Allows direct visualisation on anomalous anatomy.
From the case: DORV and dextrocardia
Modality: X-ray
Page | 92



Interrupted aortic arch
Dr Ayush Goel and Dr Yuranga Weerakkody et al.
Interrupted aortic arch (IAA) is an uncommon congenital cardiovascular anomaly where there
is a separation between the ascending and descending aorta
1
. It can either be complete or
connected by the a remnant fibrous band
2
. An accompanying large ventricular septal defect
(VSD) and/or patent ductus arteriosus (PDA) is frequently present.
Epidemiology
It may account for ~1.5% of congenital cardiac anomalies.
Pathology
Faulty embryological development of the aortic arch (thought to occur during the 5
th
to 7
th
week
of intra uterine life).
Classification
It can be classified to three types according to location of occurrence:
type a: second commonest, interruption occurs distal to the left subclavian arterial origin
type b: commonest (>50%), interruption occurs between left common carotid arterial
and left subclavian origins
type c: rare, interruption occurs proximal to left common carotid arterial origin
Each type is divided into 3 subtypes
7
:
sub-type 1: normal subclavian artery
sub-type 2: aberrant subclavian artery
sub-type 3: isolated subclavian artery that arises from the ductus arteriosus.
Associations
DiGeorge syndrome
1

o found commonly in those with a type B interruption
o almost always associated if there is a right sided descending aorta.
truncus arteriosus
8

Page | 93

Radiographic features
Plain film: chest radiograph
Plain film features are often non specific
3
:
the aortic knuckle may be absent
may show cardiomegaly
Antenatal ultrasound
The right ventricle may appear a lot larger than the left, although this is a non specific finding.
The ascending aorta may also appear more vertical than usual.
MRI/MRA
non visualisation of portion of interruption
great vessels may show a "V" configuration on coronal imaging
2

Treatment and prognosis
If un-corrected, it carries a very poor prognosis with extra uterine survival being as less as a few
days. Prostaglandin E
1
may be given as initial management to keep the ductus open.
Differential diagnosis
General differential considerations include:
short segment severe aortic coarctation






Page | 94

Truncus arteriosus
Dr Matt A. Morgan and Dr Yuranga Weerakkody et al.
Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both
the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk
3
. It is
usually classified as a conotruncal anomaly.
It accounts for up to 2% of congenital cardiac anomalies and is almost always associated with a
VSD to allow circulatory flow circuit completion
1
.
Epidemiology
The estimated incidence is 1 in 10,000 births.
Pathology
There is a lack of normal separation of the embryological truncus into a separate aorta and
pulmonary trunk. This results in a single arterial vessel that originates from the heart. It may also
result in a common truncal valve which can contain 2-4 cusps.
Sub types
There are many types of classification.
One system includes division into three main types:
type I: both aorta and pulmonary arteries arise from a common trunk
type II: pulmonary arteries arise from posterior aspect of trunk
type III: pulmonary arteries arise from either side of trunk
Associations
right sided aortic arch
interrupted aortic arch
8

persistence of primitive aortic arches
DiGeorge syndrome
Radiographic features
Radiographs
Often shows moderate cardiomegaly with pulmonary plethora (mainly as a result of collateral
formation), widened mediastinum, and right-sided aortic arch
2
.
Echocardiography/prenatal ultrasound
Page | 95

Allows direct visualisation of a single trunk. Outflow tract views are the most useful. Colour
Doppler may additionally show flow across both ways through an associated VSD.
CT/CTA
Allows direct visualisation of anomalous anatomy.
MRI
Allows direct visualisation of anomalous anatomy. SSFP cine sequences can offer additional
functional assessment.
Prognosis
Due to parallel fetal circulation, truncus arteriosus doesn't cause any haemodynamic problem in
utero. However it is a major problem postnatally and, if left untreated, approximately 80% of
infants die within the first year.
Differential diagnosis
Consider:
aortopulmonary window/fenestration
Page | 96

From
the case: Truncus arteriosus
Modality: X-ra
Page | 97

From the
case: Truncus arteriosus
Modality: X-ra
Page | 98

From the case: Truncus arteriosus
Modality: X-ray




Page | 99

Total anomalous pulmonary venous return
Dr Ayush Goel and Dr Yuranga Weerakkody et al.
Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart anomaly
with an 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.
In TAPVR all systemic and pulmonary venous blood enters the right atrium and nothing drains
into the left atrium. A right-to-left shunt is required for survival and is usually via a large patent
foramen ovale (PFO) or less commonly atrial septal defect (ASD).
Affected infants develop cyanosis and congestive heart failure in the early neonatal period.
Pathology
There is embryological failure of pulmonary venous development that results in persistent
patency of primitive systemic veins.
Classification
TAPVR can be classified into four types (in decreasing order of frequency) depending on the site
of anomalous venous union
1
:
Type I: supracardiac
most common type (over 50% of cases)
anomalous pulmonary veins terminate at the supracardiac level
pulmonary veins converge to form a left vertical vein which then drains to either
brachiocephalic vein, SVC or azygous vein
Type II: cardiac
second most common (~30% of cases)
pulmonary venous connection at the cardiac level
drainage is into the coronary sinus and then the right atrium
Type III: infracardiac
connection at the infracardiac level
the pulmonary veins join behind the left atrium to form a common vertical descending vein
the common descending vein courses anterior to the oesophagus, passes through the
diaphragm at the oesophageal hiatus and then usually joins the portal system
drainage is usually into the ductus venosus, hepatic veins, portal vein or IVC
Page | 100

Type IV: mixed pattern
least common type
anomalous venous connections at two or more levels
Associations
Approximately one-third of those with TAPVR also have other associated cardiac lesions; many
have heterotaxy syndrome, particularly asplenia. Type III (infracardiac) is also assocaited
with thoracic lymphangiectasia and pulmonary congestion.
Radiographic features
Plain film
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 supracardiac 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.
CT/MRA
Direct visualisation of anomalous venous return.
Ultrasound: echocardiography
May show blind ended left atrium with no connecting veins.
Page | 101

From the case: Supracardiac TAPVC Figure of eight appearance
Modality: X-ray








Page | 102





From the case: Supracardiac TAPVC
Modality: X-ray
Page | 103

Page | 104

Page | 105

From the case: Supracardiac TAPVC
Modality: X-ray



Page | 106

Tricuspid atresia
Dr Jeremy Jones and Dr Yuranga Weerakkody et al.
Tricuspid atresia is a cyanotic congenital cardiac anomaly which is characterised by agenesis of
the tricuspid valve and right ventricular inlet. There is almost always an obligatory intra-atrial
connection through either an ASD or patent foramen ovale (PFO) in order for circulation to be
complete
5
. A small VSD is also present. In a proportion of cases they may also be associated
with transposition of great arteries (TGA) .
Pathology
It results from an unequal atrio-ventricular canal division and the right ventricle is typically very
hypoplastic.
Associations
Recognised extra-cardiac associations include
right sided aortic arch
absent spleen: asplenia
Radiographic features
Plain film
Features may vary depending on the presence and extent of a VSD or TGA. May demonstrate
decreased pulmonary vascularity (i.e. oligaemic appearance). Cardiac size may be normal or
enlarged.
Echocardiography/ultrasound
Usually the 1
st
line imaging modality in utero. Allows direct visualisation of anomaly.
CT and MRI
Allows direct visualisation of anomaly and may typically show a fatty and / or muscular
separation of the right atrium from the right ventricle. Cine MRI can offer functional information
in addition to anatomy.


Page | 107

Pulmonary atresia
Dr Jeremy Jones and Dr Yuranga Weerakkody et al.
Pulmonary atresia is one of congenital cardiovascular anomaly in which there is complete
disruption between the right ventricular outflow tract (RVOT) and the main pulmonary artery.
Epidemiology
The estimated incidence is 1 in 10,000 births.
Pathology
The term pulmonary atresia can cover a broad spectrum of abnormalities depending on the extent
of the disruption.
Sub types
It can be classified into 3 sub-types
1
:
pulmonary atresia with intact inter ventricular septum (PA-IVS)
pulmonary atresia with VSD (PA-VSD)
complex pulmonary atresia (pulmonary atresia with complex cardiac malformation)
Associations
tetralogy of Fallot: PA-VSD is considered by some authors as a severe from of tetralogy
of Fallot
Radiographic features
CXR
PA-VSD
3
:
normal or mildly enlarged heart with poor / diminished pulmonary arterial vascular
markings
asymmetrical vascular suggest stenosis within pulmonary arterial tree
there can be plethora due to horizontal arteries forming aorto-pulmonary collaterals
mottled appearance as the lung periphery may suggest pleuro-pulmonary collateral
formation
Cardiac MRI
Page | 108

Allows direct visualisation of anomaly. Cine sequences may show a dilated non contracting right
ventricle
6
. MR angiography allows detection of aortopulmonary collaterals and patent ductus
arteriosus (if present).
Treatment
Management varies depending on the presence of a VSD. Prostaglandin E
1
is used to keep the
ductus open
5
.

From the case: Pulmonary atresia
Modality: X-ray
Page | 109

Post operative Postoperative image for correction of pulmonary atresia.



Page | 110

Ebstein anomaly
Dr Tim Luijkx and Dr Yuranga Weerakkody et al.
Ebstein anomaly is an uncommon congenital cardiac anomaly characterised by variable
developmental anomaly of the tricuspid valve
1
.
Epidemiology
The anomaly accounts for only approximately 0.5% of congenital cardiac defects
6-7
. There is no
recognised gender predilection and almost all cases seem to be sporadic, although an association
with maternal lithium carbonate injection has been postulated
6
. A few familial cases have been
reported
6-7
.
Clinical presentation
Presentation is often antenatally with development of hydrops fetalis and fetal tachyarrhythmias
6
, or in less severe cases at birth. Depending on the degree of atrial right to left shunting, the
infant may or may not be cyanosed.
Pathology
The main abnormality is an abnormal tricuspid valve (particularly septal and posetrior leaflets),
which is displaced downwards into the right ventricle resulting in atrialisation of the parts of the
ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating
from each other or from the chorda tendinae from the inferior portion of the ventricle during
embryologic development. There can be concurrent tricuspid regurgitation +/- stenosis.
Associations
chromosomal anomalies
o trisomy 13
o trisomy 21
o Turner syndrome
multiple other congenital heart lesions (e.g. with an ASD being quite common)
conduction abnormalities leading to arrhythmias (common): e.g. Wolf-Parkinson-White
syndrome
maternal lithium carbonate ingestion: possible
Radiographic features
Plain film
Findings largely depend on the severity of the abnormality and the degree to which the tricuspid
valve is displaced downwards.
Page | 111

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.
Echocardiography/ultrasound
Typically shows right heart enlargement. Colour Doppler may show tricuspid regurgitation, and
an abnormally downward displaced tricuspid valve and small right ventricle. May also show
evidence of concomitant tricuspid valve regurgitation.
CT/MRI
Allows direct visualisation of anatomical detail. Cine CT or MRI can be used akin to
echocardiagrphy for functional assessment.
A normal septal leaflet of tricuspid valve attaches 0.5-1.0 cm more apical than the anterior mitral
leaflet in the four - chamber view (some prefer the number of 8 mm/m
2
of body susrface more
apical as the cut off value.
9
). As a rule of thumb: if the tricuspid septal attachment lies more than
2 cm "beneath" (i.e. towards the apex) than mitral septal attachment, this is Ebstein anomaly.
There is also a tricuspid regurgitation and dilated right ventricle seen on cine MRI images.
If you find Ebstein anomaly, look also for other associated defects: RVOT abnormalities, ASD,
VSD and tetralogy of Fallot.
In your report, mention the position of tricuspid valve leflets, assess the degree of regurgitation
and measure right ventricular volume and function. Be sure that you quote "true" RV volume,
that is - on the ventricular side of the tricuspid valve.
Treatment and prognosis
As the anomaly is of variable severity, so is the prognosis. Symptomatic cases however,
especially those that present in utero have a poorer prognosis
6-7
. Even in initially asymptomatic
cases, life expectancy is usually limited to a few decades
7
.
A number of surgical procedures have been performed with mixed results.
History and etymology
It is named after Wilhelm Ebstein - German physician (1836-1912)
4

Differential diagnosis
The differential on a chest radiograph is extremely broad, especially as the findings in Ebstein
anomaly are so variable. With echocardiography and MRI, the diagnosis is usually self evident,
once the downwardly displaced tricuspid valve in identified.
Page | 112

Differential on a chest radiograph includes:
other congenital heart anomalies
o left to right shunts: enlarging right atrium
o pulmonary stenosis: right heart enlargement
o tetralogy of Fallot
o Uhl anomaly
3

large pericardial effusion
selective fatty infiltration of right ventricular myocardium
3

From the case: Ebstein anomaly
Modality: X-ray
Page | 113

From the case: Ebstein anomaly
Modality: X-ray
Page | 114

From the case: Ebstein anomaly
Modality: X-ray
Page | 115

From the
case: Ebstein anomaly
Modality: X-ray
Page | 116

From the case: Ebstein anomaly
Modality: X-ray
Page | 117

From the
case: Ebstein anomaly
Modality: X-ray


Page | 118

Anomalous left coronary artery off the
pulmonary artery
Dr Yuranga Weerakkody et al.
Anomalous left coronary artery off the pulmonary artery (ALCAPA), also known as Bland-
White-Garland syndrome (BWG) is a rare congenital coronary artery anomaly and is
considered one of the most serious of such anomalies
4
.
There are two forms based on onset of disease each of which has different manifestations and
outcomes
5
.
infant type
adult type
Epidemiology
This abnormality only accounts for 0.25-0.5% of all congenital cardiac anomalies
3
.
Associations
It is often an isolated anomaly but can be associated with other cardiac anomalies in
approximately 5% of cases, including
3
:
atrial septal defect (ASD)
ventricular septal defect (VSD)
coarctation of the aorta
Clinical presentation
In the infantile type, ALCAPA presents typically when infants are 1-2 months old (see
pathophysiology below).
Pathophysiology
ALCAPA results when the left main coronary artery arises from the pulmonary trunk instead of
the aorta. Function of the left main coronary arterial territory then often requires extensive
collateral formation from the right coronary artery.
In the first month of life, physiologic pulmonary hypertension tends to preserve antegrade blood
flow within the left coronary artery, and infants usually remain asymptomatic.
Page | 119

As pulmonary pressures drop, left-to-right shunting from the higher pressure left coronary
arterial system to the lower pressure pulmonary arterial system begins to occur, and patients
become symptomatic.
Radiographic features
CT - CTA
CTA allows direct visualisation of anomalous left main coronary arterial origin from
the posterior aspect of the pulmonary artery. The right coronary artery may be unusually dilated
and tortuous with evidence of collateral formation. Intercoronary collateral arteries along the
external surface of the heart or within the interventricular septum may also be seen.
Treatment and prognosis
Prognosis depends significantly of extent of collateral formation, however most infants die
within the 1
st
year of birth
4
. Death is usually due to circulatory insufficiency from left
ventricular dysfunction or mitral valve incompetence, myocardial infarction, or life-threatening
cardiac dysrhythmias
3
. Early surgical repair is potentially curative.

Page | 120

From the case:
Dilated cardiomyopathy
Modality: X-ray
Page | 121

From the case:
Dilated cardiomyopathy
Modality: X-ray



Page | 122

Cor triatriatum
Dr Tim Luijkx and Dr Yuranga Weerakkody et al.
A cor triatriatum is an extremely rare and serious congenital cardiac anomaly.
Epidemiology
It is thought to account for ~0.1% of all congenital cardiac anomalies
3,4
.
Clinical presentation
Clinical presentation depends on:
degree of stenosis in the fibromuscular membrane
integrity of the interatrial septum
presence of associated cardiovascular malformations.
It can be a cause of unexplained pulmonary hypertension in children. Typical presentation
includes dyspnea, heart failure and failure to thrive
5
.
Pathology
There are two recognised subtypes:
classical cor triatriatum (cor atriatum sinistrum): commoner
cor triatriatum dexter
4
:
In the classical type there is abnormal incorporation of pulmonary venous structures into the left
atrium with an unnecessary fibromuscular membraneous sub division through the atrial chamber.
With cor atriatum dexter a similar scenario is seen through the right atrium. Sometimes
(favourably) fenestrations within the membrane may allow some passage of blood flow.
Radiographic features
Plain film
An isolated cor triatriatum demonstrates chest x-ray changes identical to that of mitral stenosis:
the heart is normal sized with changes of chronic interstitial oedema.
Echocardiography/ultrasound
May allow direct visualisation of the membrane through the atrium +/- visualisation of accessory
chamber.
MRI
Page | 123

May allow direct visualisation of membrane +/- accessory chamber in greater detail.
Treatment and prognosis
Con triatriatum is usually fatal within the first two years of life.
The prognosis is related to timely surgical intervention, the degree of obstruction between the
two left atria, and the presence or absence of associated anomalies
5
.
Etymology
Essentially means "heart with three atria" due to the accessory chamber created by the membrane
appearing as an extra atrium.










Page | 124

Pulmonary anomalous pulmonary venous
connection
Dr Yuranga Weerakkody and Dr Maxime St-Amant et al.
Pulmonary anomalous pulmonary venous connection (PAPVC) also known as partial
anomalous pulmonary venous return (PAPVR) is a rare congenital cardiovascular condition in
which some of the pulmonary veins, but not all, drain into the systemic circulation rather than in
the left atrium.
Pathology
Classification
Four types of PAPVC have been described:
supra-cardiac
o persistant left superior vena cava
o right superior vena cava (most common)
cardiac
o right atrium
o innominate vein
infracardiac
o portal vein
o inferior vena cava (Scimitar syndrome)
mixed
o a combination of two or more of the above anomalies
Left-sided PAPVR has been reported to be found more often in adults, whereas right-sided
PAPVR is reported more commonly in children
3
. It is unclear if this is because of a higher
portion of symptomatic manifestation of the latter. The left upper lobe vein anomaly is thought to
be most common.
Associations
in ~40% of patients with right-sided PAPVC, an atrial septal defect is seen
3

more rarely it is seen with ostium primum defect, a subtype of atrioventricular defects
Radiographic features
Radiographic features are particular to each subtypes of PAPVC. The abnormal vein is rarely
identified, except in cases of Scimitar syndrome. Pulmonary venous congestion can be seen if the
venous drainage is obstructed.
Cardiomegaly can also be seen if significant abnormal intra-cardiac venous drainage occurs.
Page | 125

CT
Utilization of contrast-enhanced studies with MDCT technology, enables both detection and
characterization of the anomalies. It is considered the imaging modality of choice
3-4
.
Complications
Patients with large shunts may present with symptoms of dyspnea, chest pain and palpitations,
signs like tachycardia and murmur can be encountered.
Therapy options
include surgical repair with ASD patching, intracardiac baffle, anomalous vein anastomosis,
systemic vein translocation and Warden procedure inter alia.
Differential diagnosis
Imaging differential considerations include
total anomalous pulmonary venous return (TAPVR)
pulmonary varix
persistent left superior vena cava
Page | 126

Abnormal
curvilnear shadow overlying the heart in the right hemithorax - characteristic Scimitar finding. From
the case: Scimitar syndrome
Modality: X-ray
Page | 127

From the case: Scimitar
syndrome
Modality: X-ray
From the case: Partial anomalous pulmonary venous drainage



Page | 128

Imaging Differential Diagnosis
From the case: Left superior vena cava
Modality: X-ray



Page | 129


Double outlet left ventricle
Dr Yuranga Weerakkody and Dr Aditya Shetty et al.
Double outlet left ventricle (DOLV) is an extremely rare congenital cardiac anomaly where
both the aorta and pulmonary trunk arise from the anatomical left ventricle. It is usually
classified as a conotruncal anomaly and is often associated with a ventricular septal defect
with normal continuity between the aortic valve and anterior mitral valve. Other associated
defects are a subpulmonic and subaortic obstruction.
Associated conditions
ventricular septal defect
subpulmonic and subaortic obstruction
Radiographic features
Plain film
Features relate to the presence or absence of pulmonic valvular stenosis.
in the presence of pulmonic stenosis ,findings are similar to tetralogy of Fallot with a
normal heart size and decreased pulmonary flow.
without pulmonic stenosis, moderate cardiomegaly and increased pulmonary blood flow
are evident.
Echocardiography
It demonstrates the abnormal origin of the pulmonary artery from the left ventricle, normal
aortic-mitral continuity, and VSD.
Angiocardiography
It will demonstrate:
1. the abnormal origin of the pulmonary artery from the left ventricle,
2. the VSD defect, and
3. aortic-anterior mitral valve leaflet continuity.
Differential diagnosis
In the absence of pulmonic stenosis consider
Page | 130

truncus arteriosus
transposition of great arteries
total pulmonary anomalous venous return














Page | 131

Bicuspid aortic valve
Dr Aditya Shetty and Dr Yuranga Weerakkody et al.
A bicuspid aortic valve (BAV) refers to a spectrum of deformed aortic valves with two
functional leaflets or cusps which are often unequal in size.
They are most often congenital while an acquired bicuspid valve occurs when there is fibrous
fusion between the right and left cusps of a pre-existing trileaflet aortic valve.
A congenitial biscuspid aortic valve is considered to be one of the most common causes of
isolated aortic stenosis
4
. It is considered a major cause of aortic valve disease in young adults.
Epidemiology
The estimated incidence of a congenital bicuspid valve in the general population is thought to be
~2%. They may be more common in males.
Pathology
BAV refers to a spectrum of deformed aortic valves with two functional leaflets or cusps which
are often unequal in size. Only two cusps, commissures and sinuses are seen in the "pure" BAV
subtype. However, usually there are three cusps associated with underdevelopment of a
commissure and fusion of two adjacent cusps to form a raphe in the more common form of
BAV
7
. Over time, the abnormal stress across the valve leads to calcification, usually in
adulthood.
Associations
autosomal dominant polycystic kidney disease
coarctation of the aorta: approximately 70% (range 50-85%) of coarctations are thought
to associated with bicuspid aortic valves
2

Turner's syndrome
left sided lesions, e.g. hypoplastic left heart
other congenital lesions, e.g. atrial and ventricular septal defects, patent ductus arteriosus
intracranial aneurysm
Radiographic features
Plain film
The usefulness of plain film in the detection of a bicuspid valve is considered to be rather poor.
Occasionally the presence of a single calcified raphe at the expected site of the bicuspid valve
may suggest a biscuspid valve
4
.
Echocardiography
Page | 132

While echocardiography is the standard diagnostic procedure for the evaluation of patients with
valvular disease, differentiation of bicuspid valve from other types of calcific aortic stenosis can
sometimes be difficult
4-5
.
At the time of initial writing, an echocardiogram for the detection of a bicuspid aortic valve is
thought to carry
6
:
sensitivity: 76%
specificity: 60%
positive predictive value: 68%
negative predictive value: 95%
CT
At the time of writing, CT has much higher reported detection rate for bicuspid valves and
include
6
:
sensitivity: 94%
specificity: 100%
positive predictive value: 100%
negative predictive value: 97%
Characteristic fish-mouth shape of the open valve in systole is noted on ECG gated cardiac
CT
7
.
MRI
Cardiac MRI has the advantage of demonstrating the dynamic motion of the bicuspid valve when
heavily calcified valves make echocardiography difficult to interpret. Further, MRI can provide
non-invasive assessment of the ascending aortic diameter and the presence of a coarctation in a
single study.
Complications
Recognised complications include:
aortic stenosis:
o this is secondary to leaflet calcification which occurs earlier (around age 40) than
in patients with tri-leaflet aortic valves
o turbulent flow across the valve predisposes to leaflet calcification
aortic insufficiency:
o in children: incompetence develops secondary to redundant valve leaflets,
endocarditis, or following balloon valvuloplasty
o in adults: dilatation of the ascending aorta can lead to regurgitation
aortic aneurysm:
o an aortopathy is present irrespective of the valve function; aortic dilatation (and
dissection) is due to abnormal media; as such, BAV can be considered a disease
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of both the valve and ascending aorta, and this should be a consideration in
surgical decision making
aortic dissection: secondary to aortopathy and abnormal media
endocarditis: due to turbulent flow
Treatment and prognosis
High blood pressure should be controlled.
Symptomatic children have very little calcification, and are treated by balloon valvuloplasty.
Also, insertion of a valve in a child is not advisable, as the child will continue to grow.
In adults, aortic valve replacement is performed, and occurs in a younger age group than in
patients with tri-leaftlet valve stenosis. Aortic root replacement is also required in 30% of
patients undergoing valve replacement
9
.










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Quadricuspid aortic valve
Dr Ayush Goel and Dr Yuranga Weerakkody et al.
Quadricuspid aortic valve (QAV) is a rare cardiac valvular anomaly where there four cusps in
the place of the usual three.
Epidemiology
The estimated incidence on necropsy at ~1 in 8,000. While the incidence of QAV on 2D
echocardiography has been reported to range between 0.01-0.04%. There is no recognised
gender predilection. Some reports suggest that this anomaly may be in up to 1% of individuals
who present for aortic valve surgery
6
.
Associations
A quadricuspid aortic vavle is usually isolated but can be occasionally associated with other
cardiac anomalies, such as:
congenital coronary artery anomalies (e.g. single orifice for the coronary arteries or
presence of an accessory artery) and displacement of the coronary ostia because of the
accessory cusp
hypertrophic cardiomyopathy
subaortic stenosis
patent ductus arteriosus
ventricular septal defects
ruptured sinus of Valsalva
complete heart block
endocarditis
Pathology
Sub types
Several variations of QAV are described. The method that was traditionally described by
Hurwitz and Roberts includes
5
:
type A: four equal-sized cusps
type B: three equal-sized cusps and one smaller cusp, considered commonest variation
1

type C: two equal sized large and two equal smaller cusps
type D: one large, two indeterminate and one smaller cusp
type E: three equal-sized cusps and one larger cusp
type F: two equal-sized large cusps and two smaller cusps not equal in size
type G: four cusps unequal in size
Radiographic assessment
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Echocardiography
Has been the traditional method of diagnosis. Short-axis views of the aortic valve on
echocardiography show the characteristic appearance of a QAV: an X configuration during
diastole and a square configuration during systole
MDCT: Cardiac CT
Content required
Complications
aortic incompetence/aortic regurgitation: considered most common hemodynamic
abnormality associated with a QAV and is hypothesized to be the result of progressive
valve leaflet thickening and asymmetric mechanical stress causing abnormal leaflet
coaptation (some studies report aortic regurgitation to be present in up to 75% of people
with a QAV at the time of diagnosis
8
).
aortic stenosis: less common with a QAV
History and etymology
A first description of a quadricuspid aortic valve was thought have been described by Balingen
in 1862
8
.







Page | 136

Congenital heart disease - chest x-ray
approach
Dr Ayush Goel and Dr Frank Gaillard et al.
With the advent of echocardiography, and cardiac CT and MRI, the role of chest radiographs in
evaluating congenital heart disease has been largely been relegated to one of historical and
academic interest, although they continue to crop up in radiology exams. In most instances a
definite diagnosis cannot be made, however the differential can be narrowed to a few likely
diagnoses.
A systematic approach to interpreting paediatric chest radiographs is required. A detailed
understanding of the normal contours of the cardiomediastinum on chest radiography is essential
if abnormalities are to be detected, as well as knowing the range of normal for pulmonary
vasculature marking.
Interpretation is also made significantly easier (and you could argue that it is cheating) if
knowledge of whether the child is cyanotic or acyanotic is available.
Step 0: technical assessment
Before you even begin it is essential to assess the technical adequacy of the chest x-ray. The film
should not be rotated, over or under exposed and no excessive lordotic or kyphotic angulation
should be present. An adequate inspiratory effort must also have been obtained.
Step 1: pulmonary vasculature
Establishing whether pulmonary vasculature is normal, congested (active or passive) or
decreased is essential in narrowing the differential.
Normal pulmonary vasculature
Normal vasculature is unhelpful in that it does not narrow the differential. It may represent
milder or earlier forms of congenital heart defects, or alternatively represent abnormalities that
do not result in altered pulmonary blood flow or pressures, such as simple valvular abnormalities
of coarctation of the aorta
1
.
Congested pulmonary vasculature
Congested pulmonary vasculature can be active or passive, and represents increased blood flow
and increased pulmonary venous pressure respectively.
Active congestion is therefore seen in left to right shunts when right ventricular output is
approximately 2.5 times that of the left ventricle
1
. Although the vessels are enlarged, are seen
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more peripherally than normal and may be tortuous, in contrast of passive congestion the
margins remain distinct as there is little interstitial oedema.
Passive congestion is due to elevated pulmonary venous pressure and reflects left cardiac
dysfunction or obstruction.
Decreased pulmonary vasculature
Oligaemia of the pulmonary vasculature represents decreased blood flow through the pulmonary
circulation, usually as a result of right ventricular outflow obstruction with associated right to left
shunt.
If the proximal pulmonary arteries are enlarged, with pruning of the peripheral vascular
markings, then pulmonary arterial hypertension should be considered.
Step 2: aorta
The aorta may altered in size, location or shape.
Size
The aorta may be normal, increased of decreased in size.
An enlarged aortic knob may represent:
1. post stenotic dilatation
2. increased blood flow
o patent ductus arteriosus (PDA)
o truncus arteriosus
o valvular insufficiency
o severe tetralogy of Fallot
3. systemic hypertension
A small aortic knob usually represents reduced blood flow typically due to ASD or VSD. It may
also be primarily hypoplastic in hypoplastic left heart syndrome.
Position
Although most right sided aortic arches are incidental with only ~10% being associated with
congenital heart disease, in the setting of mirror image branching anatomy the vast majority do
have cardiac anomalies, most frequently tetralogy of Fallot
1-2
.
Shape
The most common abnormality of shape is the so-called figure of 3 sign seen in aortic
coarctation.
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Step 3: pulmonary artery
The pulmonary artery may be normal, increased or decreased in size.
A small or inapparent pulmonary artery can be due to either it being small due to congenital
hypoplasia or aplasia, decreased pulmonary flow as a result of pulmonary outflow obstruction as
in tetralogy of Fallot, or it being abnormally located as is the case in truncus arteriosus and
transposition of the great arteries
1
.
An enlarged pulmonary artery may represent:
1. post stenotic dilatation
o in pulmonary valve stenosis, the left pulmonary artery preferentially dilates due to
the orientation of the stenotic jet
2. increased pulmonary blood flow
o left to right shunts
o pulmonary valvular insufficiency
3. pulmonary arterial hypertension
o both the right and left pulmonary arteries will enlarge which distinguishes this
from pulmonary valve stenosis; there may also be peripheral pulmonary vascular
pruning
Step 4: cardiac size and shape
Finally the heart itself may be abnormal in size or demonstrate alterations in shape representing
underlying chamber enlargement or anatomic anomalies. It is also important to assess for the
correct orientation of the heart by looking for the liver/stomach below the diaphragm and
reviewing side markers.
Step 5: spine, rib cage and sternum
The vertebrae should be assessed for congenital anomalies including scoliosis which is present in
6% of patients with a congenital heart defect, but only 0.4% of the normal population
2
.
Ribs may demonstrate notching in coarctation of the aorta, or may be only number 11 in patients
with Down syndrome
2
. Down syndrome children may also show hypersegmented sternums.



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Cyanotic congenital heart disease
Dr Henry Knipe and Dr Frank Gaillard et al.
A number of entities can present as cyanotic congenital heart disease. These can be divided
into those with increased or decreased pulmonary vascularity. They include:
increased pulmonary vascularity
o total anomalous pulmonary venous return (TAPVR) (types I and II)
o transposition of the great arteries (TGA)
o truncus arteriosus (types I, II and III)
o large AVSD
o single ventricle without pulmonary stenosis
decreased pulmonary vascularity
o tetralogy of Fallot
o pentalogy of Cantrell
o many other combined and infrequent anomalies such as
double outlet right ventricle (DORV) with pulmonary stenosis
single ventricle with pulmonary stenosis
Ebstein anomaly with atrial septal defect
Uhl anomaly
Page | 140

From the case: Total anomalous pulmonary venous return (TAPVR)
Modality: X-ray




Page | 141

Acyanotic congenital heart disease
Dr Henry Knipe and Dr Frank Gaillard et al.
There are numerous causes of acyanotic congenital heart disease and can be divided into those
that have increased pulmonary vascularity and those that do not. They include:
increased pulmonary vascularity
o ventricular septal defect (VSD)
o atrial septal defect (ASD)
o atrioventricular septal defect (AVSD)
o patent ductus arteriosus (PDA)
o other less common
aortopulmonary window
ruptured aneurysm of Valsalva
coronary artery fistula
partial anomalous pulmonary venous return (PAPVR)
normal pulmonary vascularity
o small shunts (see above)
o aortic valve stenosis
o aortic coarctation
o pulmonary stenosis
Page | 142

From the case: Ventricular septal defect
Modality: X-ray
Page | 143


From the case: Ventricular septal defect
Modality: X-ray
Page | 144

From the case: AVSD
Modality: X-ray
Page | 145

From the case: Atrial septal defect
Modality: X-ray