Congenital heart disease is the most common type of birth defect, affecting around 1 in 1000 live births. It involves defects in the structure or function of the heart present at birth. Common types include ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot, and transposition of the great arteries. Causes may be genetic factors, environmental exposures during pregnancy, or both. Imaging plays an important role in diagnosis and surgical planning, with modalities like echocardiography, CT, MRI, and angiography used to characterize the anatomy and assess blood flow patterns through the heart. Treatment depends on the specific defects but may involve cardiac catheterization, balloon angioplast

1. CONGENITAL HEART DISEASE
BORN WITHA BROKENHEART
Dr. Sabnam Parvin, Dr. Dijendra
Radiodiagnosis
IPGME&R and SSKM Hospital

2. INTRODUCTION
• Most common type of birth defect
• Defect in structure or function of the heart and great vessels
• 1 in 1000 live births
• The incidence is higher in stillborns (3-4%), spontaneous
abortuses (10-25%), and premature infants
• About 1 in 4 babies born with a heart defect has a critical heart
disease

3. Anatomy of heart

33. Causes of congenital heart defects

34. Environmental factors
• Viral Infections: rubella during the first three months of pregnancy
• Medication: lithium ,Accutane , some anti-seizure medications
• Alcohol: Fetal alcohol syndrome (FAS)
• Smoking
• Cocaine
• Maternal chronic illnesses –Diabetes, phenylketonuria (PKU) and a
deficiency in the B vitamin folic acid.

35. Genetic factors
• Heredity –occur in siblings or offspring of individuals with heart
defects than those without.
• Mutations –can affect the formation of the heart and lead to
congenital heart malformations
• Linked with other birth defects – More than one-third of children
born with Down syndrome have heart defects. About 25% of girls
with Turner syndrome have heart defects

36. Acyanoticheartdisease
Pulmonary blood flow Pulmonary blood flow
N
• ASD
• VSD
• PDA
• Endocardial cushion
defect
• COA
• Aortic stenosis
• IAA

37. CyanoticHeartdisease
Pulmonary blood flow Pulmonary blood flow
• TGA
• TAPVC
• Truncus arteriosus
• Single ventricle
• TOF
• Tricuspid atresia
• Ebstein anomaly
• Eiesenmenger
• Pulmonary atresia

39. Atrial septal defect
• 2nd most common CHD after VSD
• the lesion is typically asymptomatic until adulthood
• Gradual (high output) CCF eventually develops, usually
becoming symptomatic by the age of 30.
• ~10% of congenital heart disease
• Female > Male

40. Types:
• Secondum ASD (MC)
• Primum ASD (ȃ Down syndrome)
• Sinus venosus ASD
• Coronary sinus type of ASD

41. Plain Radiograph
• Can be normal
• Sings of increased pulmonary flow
• enlarged pulmonary vessels
• upper zone vascular prominence
• vessels visible to the periphery of the film
• eventual signs of PAH
• chamber enlargement
• RA & RV
• LA is normal in size and Aortic arch is normal or small

42. There is cardiomegaly with
enlarged pulmonary conus and
dilated pulmonary arteries more
on the right side with peripheral
pruning of pulmonary vessels.

43. CXR demonstrates an enlarged heart with
prominent vascularity. The aortic arch is
normal or small and the left atrium does not
appear enlarged

44. Secundum ASD noted approximately
1.0 cm x 0.5 cm

45. Treatment
Atrial septal occlusion device

46. Ventricular septal defect
• Most common CHD
• Incidence is at ~1 in 400 births
• Never in neonants (present after 4-6wk of birth)
• Clinical feature:
• SOB (suck-rest-suck cycle)
• CCF
• Recurrent pneumonia
• Infective endocarditis
• Pansystolic murmur

47. Types:
• Peri membranous (MC, 50-70%)
• Muscular (90% healed by 2yrs of age)
• Supra crystal (swiss chasse variant)

48. • Can be normal
• Cardiomegaly
• RV ( RV>RA)
• Kerly B line (Pulmonary edema)
• PAH
• Pleural effusion
Plain Radiograph

49. The heart is enlarged and the
lungs are plethoric.

50. Foetal echocardiography
Large membranous VSD

51. Treatment and prognosis
• Prognosis is good
• Usually healed by 2yrs of age
• Medical treatment is for its complications (CCF, Infective endocarditis)
• Surgical treatment:
• Failure of medical treatment
• Supracrystal type
• Age <6months with PAH

52. Atrioventricular septal defect (AVSD)
• atrioventricular canal defects or endocardial cushion
defects,
• involving the atrial septum, ventricular septum, and one or both
of the tricuspid or mitral valve.
• 2-7% of congenital heart defects.
• ~3-4 in 10,000 births
• Clinical features similar as ASD/VSD
• MC associated with Down syndrome

53. • Plane radiograph: cardiomegaly, pulmonary plethora
• Echocardiography: the defect spectrum and often a large defect
of the midline heart.
• Angiography: "Gooseneck" sign on a lateral left ventricular
angiogram.
• MRI: superior in assessing cardiac chamber dimensions and to
assess the presence/extent of ventricular hypoplasia which is a
determinant of surgical risk.

55. Treatment
• Always surgical (age <18 months)

56. Patent ductus arteriosus
• Persistent patency of the ductus arteriosus (normal connection
of the fetal circulation)
• ~1 in 2000 full-term neonates with a F: M of 2:1
• Closed d/t:
• high O2 tension
• Low maternal prostaglandin
• Clinical features:
• CCF
• Recurrent pneumonia
• Infective endocarditis
• PAH
• Loud continuous machine-like murmur

57. • Cardiomegaly
• LA & LV
• Kerly B line (Pulmonary edema)
• PAH
Plain Radiograph
Echocardiography
• TEE and TTE

58. Pulmonary vascularity is increased.
Heart is enlarged with dilated left
ventricle.
The aorta and main pulmonary artery
segment are dilated. Calcifications are
seen at the aortopulmonary window.

59. CT
Krichenko classification based on CT angiography:
• type A: conical ductus, prominent aortic ampulla with narrowing
at pulmonary artery end
• 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

63. Treatment and prognosis
• medical
• Indomethacin: to close the ductus
• endovascular
• various closure devices
• surgical
• clipping or ligation to close

65. Coarctation of the aorta
• narrowing of the aortic lumen
• 5-8% of all congenital heart defects.
• M:F ratio of ~2-3:1.
• Clinical features:
• asymptomatic (non-severe stenosis)
• can present with angina pectoris and leg claudication
• diminished femoral pulses and differential blood pressure between upper and
lower extremities

66. Types
1.infantile (pre-ductal/severe)
• diffuse hypoplasia or narrowing of the aorta from just distal to
the brachiocephalic artery to the level of DA
• the blood supply to the descending aorta is via the PDA
2.adult (juxtaductal, postductal or middle aortic)
• 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

67. Plain radiograph
• Figure of 3 sign
• inferior rib notching: (Roesler sign)
• unusual in patients <5 years of age
• usually the 4th to 8th ribs; occasionally the 3rd to 9th ribs
• b/l rib notching: the coarctation must be distal to the origin of both
subclavian arteries,
• u/l right rib notching: the coarctation lies distal to the brachiocephalic
trunk but proximal to the origin of the left subclavian artery
• associated aberrant right subclavian artery arising after the coarctation

68. slight indentation of the
aorta (figure of 3 sign) with
associated inferior rib
notching (Roesler sign)

70. Bilateral inferior rib notching and
very small aortic arch silhouette.

71. Angiography
CTA

72. MRA

73. DSA

74. Differential diagnosis
• Pseudo-coarctation of the aorta
• chronic large vessel arteritis

75. Treatment and prognosis
• excision of the coarctation and end-to-end anastomosis,
• balloon angioplasty.
• Subclavian flap repair is a common surgical technique used,
where the origin and proximal left subclavian artery is excised,
opened up and sutured onto the aorta.
• If the subclavian is ligated, it is usually anastomosed onto the
left common carotid artery.

76. Interrupted aortic arch
• an uncommon (~1.5%) CHD
• separation between the ascending and descending aorta.
(complete/connected by a fibrous band).
• An accompanying large VSD and/or PDA is frequently present.
• A right-sided descending aorta with aortic interruption is almost
always associated with DiGeorge syndrome

77. Classification(Celoria-Patton)
• type A: 2nd MC, the interruption occurs distal to the left subclavian
arterial origin
• type B: MC (>50%), the break occurs between the left common
carotid and left subclavian arterial origins
• type C: rare, interruption occurs proximal to the left common carotid
arterial origin
Each type is divided into three subtypes 7:
• subtype 1: normal subclavian artery
• subtype 2: aberrant subclavian artery
• subtype 3: isolated subclavian artery that arises from the ductus
arteriosus

79. • Plain radiograph
• often non-specific (the aortic knuckle may be absent or may show
cardiomegaly
• Antenatal ultrasound/Echocardiography

80. Type A1 IAA. VR image (posterior
view) shows the left aortic arch with
aortic interruption just distal to the
left subclavian artery (arrows).

81. Type B3 IAA. VR image (left posterior
oblique view) shows interruption between
the left common carotid artery and the left
subclavian artery (arrowheads). An isolated
right subclavian artery is also seen (arrow).

82. Treatment and prognosis
• very poor prognosis
• Prostaglandin E1 may be given to initial management to keep
the ductus open.
• Surgical correction (either single- or multistage) is the definitive
treatment.

83. Differential diagnosis
• Short segment severe aortic coarctation

85. Transposition of the great arteries
• 2nd MC cyanotic heart disease.
• MC cyanotic HD in neonates, cyanosis within 24hrs of life.
• ~1 in 5000 births
• An isolated TGA is incompatible with life at birth without one
of the following additional anomalies:
• ASD
• VSD (~35%)
• PDA
• patent foramen ovale
• It is most common in infants of diabetic mothers

86. Circulation In TGA

87. Plain radiograph
• cardiomegaly with egg on string appearance.

88. CT/CTA

89. CT/CTA

90. CT/CTA

91. CT/CTA

92. CT/CTA

93. CT/CTA

94. CT/CTA

95. CT/CTA

96. CT/CTA

97. CT/CTA

98. CT/CTA

99. Treatment and prognosis
• Rashkind septoplasty (palliative procedure in neonates)
• Atrial switch procedures (Definitive)

100. Circulation after atrial switch surgery

101. Total anomalous pulmonary venous return
• abnormal drainage anatomy of the entire pulmonary venous
system
• all systemic and pulmonary venous blood enters the RA and
nothing drains into the LA.
• develop cyanosis and congestive heart failure in the early
neonatal period

102. Classification
Type I: supracardiac (MC)
• pulmonary veins converge to form a left vertical vein which then
drains to either brachiocephalic vein, SVC, or azygous vein
Type II: cardiac (2nd MC)
• drainage is into the coronary sinus and then the right atrium
Type III: infracardiac
• 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 join the portal system
• drainage is usually into the ductus venosus, hepatic veins, portal
vein, or IVC
Type IV: mixed pattern (least common)

104. Plain radiograph
• The right heart is prominent
• Classical snow man appearance in supra cardiac type
• also known as figure of 8 heart or cottage loaf heart
• Schmiter syndrome in infra cardiac type

107. CTA

112. Tetralogy of Fallot
• The MC cyanotic HD
• combination of VSD, RVOT Obstruction , overriding aorta, and
late RVH.
• 5 to 10% of all CHD
• 1 in 2000 births
• cyanosis evident in the neonatal period
• Clubbing
• Pulmonary ejection systolic murmur

113. Pathology
1.VSD
2.RVOTO due to
1.infundibular stenosis, or
2.hypoplastic pulmonary valve annulus, or
3.bicuspid pulmonary valve, and/or
4.hypoplasia of pulmonary artery
3.overriding aorta
4.RVH: only develops after birth

114. Plain radiograph
• Boot shaped heart
• Pulmonary oligaemia

116. CTA

117. CTA

118. CTA

119. MRI
• A detailed assessment of the pulmonary artery because the
repair of the cardiac defects without addressing pulmonary
artery hypoplasia or stenosis has a poor outcome
• 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
• Assessment of coronary artery origin is also essential to
surgical planning.

120. Complications
• CCF
• IE
• Brain abscess (parietal)
• Paradoxical embolism (heart ,brain)
• PAH- Eisenmenger

121. Treatment and prognosis
• Prophylactic:
• Oral iron therapy(12mg/kg)
• Oral propranolol
• Definitive: (shunt operation)
• Pott shunt
• Waterston shunt
• Blalock-Taussig shunt
• Modified Blalock-Taussig shunt

123. Post-surgical complications
• conduction abnormalities
• RBBB: 80-90% of cases
• bifascicular block: 15% of cases
• premature ventricular contractions (PVC): ~50% of cases
• sustained ventricular tachycardias (VT): ~5% of cases
• atrial arrhythmias: common
• valvular dysfunction
• tricuspid regurgitation
• pulmonary regurgitation

124. Tricuspid atresia
• Agenesis of the tricuspid valve and right ventricular inlet
• an obligatory intra-atrial connection through either an ASD
or patent foramen ovale
• Only cyanotic condition associated with LVH
• a/w hypoplastic RV
• Extra cardiac Associations
• right-sided aortic arch
• absent spleen

125. Plain radiograph
• pulmonary oligemia
• Cardiac size : normal / enlarged

126. CTA

127. Treatment and prognosis
• Postaglandin infusion f/b surgery

128. Ebstein anomaly
• Uncommon CHD
• Atrialisation of RV
• the most common cause of congenital tricuspid regurgitation.
• Antenatal: hydrops fetalis and fetal tachyarrhythmias

129. Plain radiograph
• right-sided cardiomegaly having a "box shape“ appearance

131. ANTENATAL USG

132. MRI

133. Treatment and prognosis
• Postaglandin infusion f/b surgery

134. Eisenmenger syndrome
• complication of an uncorrected high-flow, high-pressure CHD
leading to chronic PAH and shunt reversal
• Predominantly seen in:
• VSD
• AVSD
• PDA
• Easy fatigue, dyspnoea, chest pain and syncope.
•

135. Radiographic features
• No specific imaging findings

136. Treatment and prognosis
• Palliative
• closure of the underlying shunt is contra-indicated
• Eisenmenger phenomenon is one of the most severe
manifestations of PAH, the prognosis is better than that
of idiopathic PAH

137. Ductal dependant
lesion
Systemic Pulmonary
• CoA
• IAA
• Left heart hypoplastic
syndrome
• TOF
• Ebstain anomay
• Tricuspid atresia
• Right heart
hypoplastic syndrome

138. Syndromic association
• Down’s: AVSD>VSD>ASD
• Edward’s: VSD>ASD
• Patau: ASD>VSD
• Noonan: PS> Sub aortic stenosis
• Turner: Bicuspid aortic valve
• Willisam: Supravalvular AS

139. • CASE
A 20years old female presented with shortness of breath,
palpitations, and generalized weakness. On chest auscultation,
ejection systolic murmur heard at the left upper sternal border.

141. CXR findings:
Cardiomegaly with enlarged pulmonary artery and increased
pulmonary vascularity (plethora). Small aortic knuckle.
Echo cardiography confirmed the diagnosis of ASD

142. SPOTTER

145. CoA

147. TAPVC

149. SCHMITER

151. EBSTAIN
ANOMALY

153. Take Home massage
• Every 15 minutes a baby born with CHD
• We can cut off the environmental causes by awareness
• Early diagnosis can prevent the complications and decrease morbidity
and mortality.

155. “ Whenever there is a human is need, There’s an
opportunity for kindness and To make a
difference!!”
-Palak Muchhal