Journal
CURRENT CARDIOLOGY REVIEWS
Volume 6, Issue 2, Pages 91-97Publisher
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/157340310791162703
Keywords
Congenital heart disease; genetics; cardiac development
Categories
Funding
- NIH/NHLBI
- March of Dimes Birth Defects Foundation
- Children's Heart Foundation
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Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease.
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