Genetic link between heart and neurodevelopmental disease discovered

Researchers have identified a link between congenital heart disease and neurodevelopmental delays affecting children.

The Harvard Medical School-led study involved exome sequence analyses of more than 1,200 children and their parents, showing that children with both congenital heart disease and neurodevelopmental delays share certain genetic mutations.

Mutations in the protein-coding portion of the genomes of children with congenital heart disease were identified that were not present in their parents' genomes. More of these de novo mutations were seen in genes that are highly expressed in the developing heart.

These findings bolster the case for cardiac and extracardiac abnormalities having shared genetic causes, rather than being the result of surgeries or environmental factors.

It could also lead to early testing to help identify newborns with congenital heart disease who are at high risk of neurodevelopmental difficulties.

Co-senior author Christine Seidman, a professor of genetics and medicine at Brigham and Women's Hospital, said: "If we could identify children at high risk for neurodevelopmental delays, they could receive increased surveillance and earlier interventions than occur now."