Congenital cardiovascular anomalies
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At the time the article was created Frank Gaillard had no recorded disclosures.View Frank Gaillard's current disclosures
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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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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:
trisomy 18: up to 90% can have cardiac anomalies
trisomy 13: up to 90%
trisomy 21: up to 50%
Turner syndrome: up to 40%
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:
tetralogy of Fallot (TOF): 7% to 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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