Genetic factors in non-syndromic congenital heart malformations

Clin Genet. 2010 Aug;78(2):103-23. doi: 10.1111/j.1399-0004.2010.01435.x. Epub 2010 May 17.


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.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Genetic Predisposition to Disease
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Mutation / genetics
  • Penetrance
  • Syndrome