Genetics and genetic testing in congenital heart disease

Jason R Cowan; Stephanie M Ware

doi:10.1016/j.clp.2015.02.009

Genetics and genetic testing in congenital heart disease

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

Authors

Jason R Cowan¹, Stephanie M Ware²

Affiliations

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.

PMID: 26042910
DOI: 10.1016/j.clp.2015.02.009

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.

Publication types

Review

MeSH terms

Genetic Testing / methods*
Global Health
Heart Defects, Congenital* / diagnosis
Heart Defects, Congenital* / epidemiology
Heart Defects, Congenital* / genetics
Humans
Infant, Newborn
Morbidity