Congenital heart disease (CHD) is a common birth defect affecting 1 in every 100 babies born. The genetic cause is known in fewer than 20% cases. As part of the PROCEED network that includes researchers from Canada, the Netherlands, and Germany, as well as key collaborators from Australia and Belgium, we used “whole genome sequencing” to look at the entire genetic code of over 1500 patients with CHD.

We discovered new causes of CHD which included defects in new genes, defects affecting multiple genes, and trouble in parts of the genetic code that control how genes work. This discovery made it four times more likely to find the cause of CHD compared to regular genetic tests. We further found that some gene defects are related to more severe disease.

These findings were returned to physicians and families to help speed up the diagnosis of the genetic cause of CHD. It also laid the groundwork for personalized care. By knowing the type of gene defect, doctors can predict how severe a person’s heart and other health problems might be and can decide the best type and timing of surgery. This information can also give a more accurate idea of the chances of having a similar problem in the family.

In the future, this research could help doctors figure out which babies might benefit from special treatments before they’re born. This would reduce the challenges of dealing with complex CHD and improve the chances of successful treatment.

Seema Mital, MD
Lead Investigator, The Hospital for Sick Children, Canada