What role do genetics play in congenital heart disease?

Genetics plays a significant role in congenital heart disease, contributing to approximately 20% to 30% of cases.

The heart develops through a complex sequence of genetic instructions. When these instructions are altered, structural differences can occur.

Some conditions are linked to chromosomal abnormalities, such as Down’s syndrome or 22q11.2 deletion. Others are caused by changes in individual genes or a combination of genetic and environmental factors.

Not all cases are inherited. Many occur spontaneously, even when there is no family history.

Understanding these genetic links helps guide screening, diagnosis, and early care planning.

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