As survival has improved dramatically for children with even the most serious forms of heart disease, neurodevelopmental disabilities have been increasingly recognized. These can affect not only school performance, but also future employment, quality of life and social relationships.

“We’ve known for a while that children with congenital heart disease (CHD) have a higher risk of developmental delays,” says Amy Roberts, MD, a genetic cardiologist at the Boston Children’s Hospital Heart Center. “There are multiple hypotheses as to why that might be, and they’re not mutually exclusive.”

The side effects of surgery, such as oxygen deprivation during bypass, are commonly thought to be to blame. Others suspect problems with the in utero environment. But these factors are not the whole story.

“Even in studies that have measured every known risk factor, only one third of neurodevelopmental disabilities in children with CHD can be explained by factors related to the child’s heart disease, medical history or family factors,” notes Jane Newburger, MD, MPH, director of the Cardiac Neurodevelopment Program at Boston Children’s.

Perhaps there is a genetic component?

In a recent study published in Science, a team of researchers from seven hospitals (Boston Children’s, Brigham and Women’s Hospital, Children’s Hospital of Philadelphia, Columbia, Mount Sinai, Yale and University of California Los Angeles), examined the whole genomes of 1,213 patients with complex CHD, looking for genetic indicators that a child will have developmental delays alongside his or her CHD. …