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Clin Perinatol. 2015 Jun;42(2):373-93, ix. doi: 10.1016/j.clp.2015.02.009. Epub 2015 Apr 14.

Genetics and genetic testing in congenital heart disease.

Author information

1
Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA; Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA.
2
Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA. Electronic address: stware@iu.edu.

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.

KEYWORDS:

Cardiovascular malformation; Congenital anomaly; Development; Genetic counseling; Genetic testing; Genetics

PMID:
26042910
DOI:
10.1016/j.clp.2015.02.009
[Indexed for MEDLINE]
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