Congenital heart defect

A congenital heart defect is a defect in the structure of the heart and great blood vessels of the newborn.

Aetiology

The cause of most congenital heart disease is unknown.

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

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Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognised 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.

Related Topics:
Trisomies - 21 - 13 - 18 - Point mutations - Point deletions - CATCH 22 - Familial ASD with heart block - Alagille syndrome - Noonan syndrome

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

Related Topics:
Infections - Rubella - Drugs - Alcohol - Hydantoin - Lithium - Thalidomide - Diabetes mellitus - Phenylketonuria - Systemic lupus erythematosus

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