The genetic defect in most patients with non-syndromic congenital heart malformations (CHM) is unknown, although more than 40 different genes have already been implicated. Only a minority of CHM seems to be due to monogenetic mutations, and the majority occurs sporadically. The multifactorial inheritance hypothesis of common diseases suggesting that the cumulative effect of multiple genetic and environmental risk factors leads to disease, might also apply for CHM. We review here the monogenic disease genes with high-penetrance mutations, susceptibility genes with reduced-penetrance mutations, and somatic mutations implicated in non-syndromic CHM.

Congenital heart malformations, Disease genes, Etiology, Risk factors, Susceptibility factors
dx.doi.org/10.1111/j.1399-0004.2010.01435.x, hdl.handle.net/1765/62762
Clinical Genetics: an international journal of genetics and molecular medicine
Department of Clinical Genetics

Wessels, M.W, & Willems, P.J. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics: an international journal of genetics and molecular medicine (Vol. 78, pp. 103–123). doi:10.1111/j.1399-0004.2010.01435.x