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The causes of congenital heart defects are not well understood. Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect may be more likely than other people to have a child with the condition. In rare cases, more than one child in a family is born with a heart defect. Children with genetic defects often have congenital heart defects. An example of this is Down syndrome—half of all babies with Down syndrome have congenital heart defects.
Scientists are searching for genes implicated in the development of congenital heart disease. Thus far, only a minority of genes have been shown to carry mutations associated with congenital disease in humans, e.g., NOTCH1, GATA 4, TBX-5, and NKX2-5 (reference). NOTCH1 is a gene involved in the Notch signaling pathway which is known to play an important role in cardiac development (reference).