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Current Cardiology Reviews


ISSN (Print): 1573-403X
ISSN (Online): 1875-6557

Genetics of Congenital Heart Disease

Author(s): Ashleigh A. Richards and Vidu Garg

Volume 6, Issue 2, 2010

Page: [91 - 97] Pages: 7

DOI: 10.2174/157340310791162703

Price: $65


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.

Keywords: Congenital heart disease, genetics, cardiac development

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