Genetic factors in non-syndromic congenital heart malformations

• Published in: Clinical genetics Vol. 78; no. 2; pp. 103 - 123
• Main Authors: Wessels, MW, Willems, PJ
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.08.2010; Wiley-Blackwell
• Subjects: Biological and medical sciences; Birth defects; Chromosome Aberrations; congenital heart malformations; disease genes; etiology; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Heart; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation - genetics; Penetrance; risk factors; susceptibility factors; Syndrome; Heart; Human; risk factors; susceptibility factors; Congenital; Disease; Genetic determinism; congenital heart malformations; Gene; Etiology; Malformation; Risk factor; disease genes; Genetics
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2010.01435.x

Wessels MW, Willems PJ. Genetic factors in non‐syndromic congenital heart malformations. 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.