Genetic factors in non‐syndromic congenital heart malformations
2010; Wiley; Volume: 78; Issue: 2 Linguagem: Inglês
10.1111/j.1399-0004.2010.01435.x
ISSN1399-0004
Autores Tópico(s)Coronary Artery Anomalies
ResumoThe 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.
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