Chapter 13 - Genetic Basis of Congenital Heart Disease

Abstract

Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities are a significant cause of CHD; however, identifying precise defects has proven challenging due to genetic heterogeneity, incomplete penetrance, polygenes, and other nongenetic contributions. With advances in genomic technology and the decreased cost of sequencing, copy number variants and de novo mutations have been increasingly identified as a cause of CHD. The patients with identifiable causes of their CHD are much more likely to have associated extra cardiac manifestations, including neurodevelopmental disorders. Clinical genetic testing is increasingly available and able to diagnose these disorders and will likely allow for increasingly accurate neonatal and prenatal diagnosis to guide care.