EP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease

Abstract

Congenital heart disease (CHD) is the most common human birth defect and is heterogeneous in its underlying etiology. Genetic testing is becoming an important piece of the diagnostic work-up; identifying a molecular etiology can guide medical management, determine the need for surveillance of extracardiac features, and identify at-risk relatives. Copy number variants (CNVs) and chromosomal aneuploidies are more common in CHD than are single-gene variants identified in next-generation sequencing (NGS) panels.