Genetic testing in congenital heart disease: A clinical approach.

ABSTRACT: Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is conting

SUBMITTER: Chaix MA 

PROVIDER: S-EPMC4766268 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature