Genetics and Genetic Testing in Congenital Heart Disease

被引：97

作者：

Cowan, Jason R. ^{[1
,2
]}

Ware, Stephanie M. ^{[2
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Dev Biol, Cincinnati, OH 45229 USA

[2] Indiana Univ Sch Med, Dept Pediat & Med & Mol Genet, Herman B Wells Ctr Pediat Res, Indianapolis, IN 46202 USA

来源：

CLINICS IN PERINATOLOGY | 2015年 / 42卷 / 02期

关键词：

Congenital anomaly; Cardiovascular malformation; Development; Genetics; Genetic counseling; Genetic testing; SUBMICROSCOPIC CHROMOSOMAL IMBALANCES; COMPARATIVE GENOMIC HYBRIDIZATION; BICUSPID AORTIC-VALVE; CURRENT KNOWLEDGE; RISK-FACTORS; ULTRACONSERVED ELEMENTS; CARDIOVASCULAR-DISEASE; SCIENTIFIC STATEMENT; GENERAL-POPULATION; ARRAY-CGH;

D O I：

10.1016/j.clp.2015.02.009

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extracardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD causes. These distinctions remain clinically relevant, but it is increasingly clear that nonsyndromic CHDs can also be genetic. This article discusses key morphologic, molecular, and signaling mechanisms relevant to heart development, summarizes overall progress in molecular genetic analyses of CHDs, and provides current recommendations for clinical application of genetic testing.

引用

页码：373 / 393

页数：21

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