Abstract
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
Current Cardiology Reviews
Title: Genetics of Congenital Heart Disease
Volume: 6 Issue: 2
Author(s): Ashleigh A. Richards and Vidu Garg
Affiliation:
Keywords: Congenital heart disease, genetics, cardiac development
Abstract: 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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Cite this article as:
A. Richards Ashleigh and Garg Vidu, Genetics of Congenital Heart Disease, Current Cardiology Reviews 2010; 6 (2) . https://dx.doi.org/10.2174/157340310791162703
DOI https://dx.doi.org/10.2174/157340310791162703 |
Print ISSN 1573-403X |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6557 |
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