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PMID: 21532774 Published · ppublish English Journal Article

Genetics of congenital heart disease.

Current cardiology reviews ·Vol. 6 ·No. 2 ·2010-05-00 ·Pages 91-7

Richards AA, Garg V

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 cardiac development. genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Richards Ashleigh A
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Garg Vidu
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Article Info
Journal
Current cardiology reviews
Abbr.
Curr Cardiol Rev
ISSN
1875-6557
DOI
10.2174/157340310791162703
Published
2010-05-00
Pages
91-7
Language
English
Region
United Arab Emirates
NLM ID
101261935
PMCID
PMC2892081
External Links
PubMed source DOI: 10.2174/157340310791162703 PMC Full Text View journal details
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