Genetics and genomics of congenital heart disease

S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Circulation research, 2017Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart
disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown.
Advances in genomic technologies have discovered the genetic causes of a significant
fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics.
This review will focus on the evidence for genetic causes underlying CHD and discuss data …
Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development and affect clinical care of patients with CHD. Finally, we address clinical genetic evaluation of patients and families affected by CHD.
Am Heart Assoc