Congenital cardiovascular anomalies

Last revised by Hussein Furaiji on 9 Dec 2022

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. 

In a large study in the UK, it was found that congenital heart disease was present in almost 1 in 100 live births (~80 per 10,000 births) 7.

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

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.

These defects as a group have a heterogeneous etiology 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.

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

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

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Cases and figures

  • Case 1: Ebstein anomaly
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  • Case 2: ventricular septal defect
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  • Case 3: atrioventricular septal defect
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  • Case 4: tetralogy of Fallot
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  • Case 5: atrial septal defect
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  • Case 6: transposition of great arteries
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  • Case 7: TAPVR
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  • Case 8: Ebstein's anomaly - antenatal ultrasound
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  • Tetralogy of Fallot (diagram)
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