Genetics of Congenital Heart Disease

Abstract

Congenital heart disease (CHD) is the most common congenital malformation accounting for one-third of all congenital abnormalities with an incidence of 7–10 per 1000 live births. Congenital heart disease may be associated with chromosomal aneuploidy and single gene disorders. However, an underlying chromosomal or genetic abnormality is found in less than 20% of patients with CHD. However, there is probably a genetic contribution to CHD even it has not been identified. The genetics of congenital heart disease is highly complex. Mutations in different genes can cause an identical malformation, whilst identical mutations in the same gene can result in a spectrum of cardiac malformations. Environmental factors play a major role in the development of cardiac malformations.