Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular ventricular septal defects (VSDs) are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn.
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Epidemiology
In a large study in the UK, it was found that congenital heart anomalies were present in almost 1 in 100 live births (~80 in 10,000 births) 7.
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%
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 anomalies as a group have a heterogeneous aetiology with many resulting from an interplay between both genetic and environmental factors. An understanding of complex cardiac development is important in understanding the numerous possible abnormalities that can arise.
Subtypes
A list of anomalies and their approximate occurrences (as a percentage of all congenital cardiac anomalies) are given below:
tetralogy of Fallot (TOF): 7-10% 8
Ebstein anomaly: 0.7%
Bland-White-Garland syndrome: ~0.5%
cor triatriatum: ~0.1%
Gerbode defect: <1%
Shone complex: <1%
aortoventricular tunnel <0.1%
Other valvular anomalies
Percentages may not necessarily add up to 100 due to overlap and simultaneous occurrence of abnormalities.
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