title: 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.
authors.affiliation: 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.
authors.forename: Jason R
authors.initials: JR
authors.lastname: Cowan
authors.affiliation: 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.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
mesh_terms: D005820:Genetic Testing / Q000379:methods*; D014943:Global Health; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009017:Morbidity
keywords: Cardiovascular malformation; Congenital anomaly; Development; Genetic counseling; Genetic testing; Genetics