What is the recurrence risk for congenital heart disease (CHD) with an affected sibling?

The recurrence risk for congenital heart disease (CHD) with an affected sibling typically falls within the range of 3-4%. This estimate reflects well-established data suggesting that when one sibling is affected by CHD, the genetic and environmental factors contributing to the condition increase the likelihood of another sibling also being affected.

Research indicates that genetic factors play a significant role in the risk of CHD, and the presence of an affected sibling serves as an important indicator of familial risk. The range of 3-4% is backed by studies that have assessed sibling recurrence rates, particularly in families with one child diagnosed with a congenital heart defect.

For families with multiple affected siblings or additional complexities, further evaluation may be warranted to understand specific risks more accurately. However, in cases of a single affected sibling, the 3-4% risk is the standard estimate utilized in genetic counseling to guide families in their understanding of recurrence risks.