congenital heart disease

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Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular VSDs are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn.

Clinical presentation

Broadly, congenital cardiovascular anomalies can be clinically divided into:

Depending on the lesion and its severity, patients may be asymptomatic or conversely, may present with rapidly deteriorating congestive cardiac failure.

Pathology

These defects as a group have a heterogeneous etiology with many resulting from an interplay between both genetic and environmental factors.

Subtypes

A list of anomalies and their approximate occurrences (as a percentage of all congenital cardiac disease) are given below:

ventricular septal defect (VSD): 40%
atrial septal defect (ASD): 10%
congenital pulmonary stenosis: 8%
patent ductus arteriosus (PDA): 7%
transposition of the great arteries (TGA): 7%
tetralogy of Fallot (TOF): 5%
coarctation of the aorta: 5%
atrioventricular septal defect (AVSD): 4%
congenital aortic stenosis: 4%
hypoplastic left heart syndrome (HLHS): 4%
double outlet right ventricle (DORV): 2%
interrupted aortic arch (IAA): 1.5%
truncus arteriosus: 1%
total anomalous pulmonary venous return (TAPVR): 1%
tricuspid atresia: 1%
pulmonary atresia:
Ebstein anomaly: 0.7%
Bland-White-Garland syndrome: ~0.5%
cor triatriatum: ~0.1%
partial anomalous pulmonary venous return (PAPVR): 0.5%
double outlet left ventricle (DOLV)
aortopulmonary septal defect: <1%
Gerbode defect: <1%
Shone complex: <1%
hypoplastic right heart syndrome (HRHS)
aortoventricular tunnel <0.1%

Other valvular anomalies

Percentages may not necessarily add up to 100 due to overlap and simultaneous occurrence of abnormalities.

Associations

Congenital cardiac anomalies can be found with many aneuploid conditions which include:

trisomy 18: up to 90% can have cardiac anomalies
trisomy 13: up to 90%
trisomy 21: up to 50%
Turner syndrome: up to 40%

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