Genetics of Congenital Heart Disease

被引:134
|
作者
Richards, Ashleigh A. [1 ]
Garg, Vidu [2 ,3 ,4 ]
机构
[1] Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA
[2] Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA
[3] Nationwide Childrens Hosp, Heart Ctr, Columbus, OH 43210 USA
[4] Nationwide Childrens Hosp, Ctr Cardiovasc & Pulm Res, 700 Childrens Dr Room W302, Columbus, OH 43205 USA
关键词
Congenital heart disease; genetics; cardiac development;
D O I
10.2174/157340310791162703
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:91 / 97
页数:7
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