Genetics of Congenital Heart Disease Research

Heart defects are common birth defects that contribute to a large proportion of infant deaths. Heart defects place heavy burdens on families and society as their lifelong care can be challenging and costly.

Faculty members at Nationwide Children’s Hospital are working to understand the genetic basis of congenital heart disease and are investigating how genetic and environmental factors play a role in the development of heart defects in children. They have identified familial cases of congenital heart disease and used traditional linkage studies to discover genes linked to human congenital cardiac malformations. They also explore mouse models to understand how these defects develop. Their studies could enhance diagnosis and improve treatment and outcomes for patients congenital heart defects.