Genetics of Congenital Heart Disease

Abstract

Congenital heart disease (CHD) is a common type of birth defect and a leading cause of infant and childhood mortality. Although recent advancements in genetic technologies have allowed for the discovery of new genomic variation associated with CHD, the prioritization and interpretation of variants for pathogenicity remain a challenge. Further, the underlying molecular genetic mechanisms for CHD remain incompletely defined. In this article, we summarize established genetic etiologies of CHD and highlight advances in knowledge of the underlying genetic architecture of CHD, along with challenges in genetic variation interpretation, the clinical implications of these genomic advances, and future directions.

Keywords: Clinical outcomes; Congenital heart disease; Genetic testing; Genetics.