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Researchers take important step in unlocking what causes congenital heart disease

Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect.

The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart. Congenital heart disease can cause infants to be born with structural heart problems, which can be serious or even life-threatening.

The findings, which were published online today in the journal Nature, will inform future research into the causes of congenital heart disease.

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 how congenital heart disease develops in order to improve treatment and perhaps eventually prevent congenital heart disease in the early stages of heart formation.

Jonathan R. Kaltman, M.D., chief of the Heart Development and Structural Diseases Branch in the NHLBI's Division of Cardiovascular Sciences and coauthor of the paper, is available to comment on the findings and implications of this research.

For Dr. Kaltman's complete bio, please visit:

For a complete list of the Pediatric Cardiac Genomics Consortium Centers involved in this effort, please visit:

Supplemental Information:
NHLBI Bench to Bassinet program website
Health Topic: What are congenital heart defects?
NHLBI Story of Success: Congenital heart disease
Media availability: Bench to bassinet program seeks congenital heart disease treatments
Children and Clinical Studies website
Part of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

NIH...Turning Discovery Into Health

NHLBI Communications Office | EurekAlert!
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