Congenital heart disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2] Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]

Overview

As is common with many congenital related conditions, there are gaps in knowledge regarding the causation of congenital heart disease. Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

Causes

Current knowledge regarding the causes of congenital heart disease is limited. Most research has been based on small studies(<1,000 patients). Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

Where a cause is known, it may be of a multifactorial origin and/or a result of genetic predisposition and environmental factors.

Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognized genetic point mutations, point deletions and other genetic abnormalities as seen in syndromes such as CATCH 22, familial ASD with heart block, Alagille syndrome, Noonan syndrome, and many more.

Known antenatal environmental factors include maternal infections (Rubella), drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).

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