Related Experiment Video
Updated: Apr 11, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
Published on: May 5, 2018
Genetics and genetic testing in congenital heart disease
Jason R Cowan1, Stephanie M Ware2
1Division 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.
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.
More Related Videos
08:28Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Pharmacogenomics: Identification of New Drug Targets
Animal Mitochondrial Genetics
Genetic Lingo
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance