The Manton Center for Orphan Disease Research
Amy E. Roberts, MD
Identification and characterization of novel genes in left sided congenital heart disease
A significant proportion of heart malformations in children are due to a genetic cause. We are only beginning to uncover what those genetic causes are. One form of heart malformation that affects the left side of the heart is often seen more than once in a family with a range of seriousness from mild to lethal without surgical intervention. Although all of us have repetition in our DNA that does not cause disease, occasionally duplications of genetic material can cause medical problems. There are two cases at our institution of children with a left sided heart malformation who have a genetic duplication (extra genetic material) that we believe caused their heart defect. There are dozens of genes within each duplicated region and we believe that several of these genes must be important for the normal development of the heart. We will study heart tissue from children with left sided heart defects to see if any of the genes in these two regions are more or less expressed when compared to healthy cardiac tissue. We will determine if mutations in the genes that are different in their expression in children with heart malformations can cause heart disease in a larger group of children born with a heart problem. It is our hope that by better understanding the genetic causes of heart malformations, there will be improved diagnostics, treatments, and disease management with the ultimate goal of preventing the heart abnormalities in the first place.