Genetics and genetic testing in congenital heart disease.

Abstract:

: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.

journal_name

Clin Perinatol

journal_title

Clinics in perinatology

authors

Cowan JR,Ware SM

doi

10.1016/j.clp.2015.02.009

subject

Has Abstract

pub_date

2015-06-01 00:00:00

pages

373-93, ix

issue

2

eissn

0095-5108

issn

1557-9840

pii

S0095-5108(15)00026-3

journal_volume

42

pub_type

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