Congenital Heart Disease Linked to Various Birth Defects

A new study shows that sequencing analysis of congenital heart disease brings us closer to understanding the most common type of birth defect.

The analysis showed that various birth defects, including spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and the heart.

Congenital heart disease can cause infants to be born with structural heart problems that can be serious or even life-threatening.

This research was conducted through the National Heart, Lung, and Blood Institute- (NHLBI) supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative research effort. The NHLBI is part of the National Institutes of Health.

The researchers looked at 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents, as well as 264 healthy parent-offspring trios, which served as the control group. The team conducted an analysis using state-of-the-art sequencing and genome mapping techniques and found that the children with congenital heart disease had a greatly increased rate of spontaneous mutations among genes that are highly expressed, or active, in the developing heart. Specifically, the analysis found that about 10 percent of the participant cases were associated with spontaneous mutations that arise during fetal development. Many of these genes were involved in a specific pathway that controls and regulates gene expression, which provides some insight into how the defects arise.

The Pediatric Cardiac Genomics Consortium provided resources to recruit thousands of patients in a small amount of time and used advanced sequencing techniques to identify genes that are implicated in congenital heart disease.

Future research aims to better understand in order to improve treatment and perhaps eventually prevent congenital heart disease in the early stages of heart formation.

The findings can be found online in the journal Nature.