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Largest Genetic Study of its Kind to Date Leads to Deeper Understanding of Heart Defects in Children

Baby and Doctor

A congenital heart defect describes a structural flaw in the heart or major blood vessels that is present at birth. This common birth defect affects about 40,000 newborns every year. Even with proper treatment, children with congenital heart defects must contend with irregular heart beat and heart failure.

Cardiologists, basic scientists and computational biologists at University of Utah Health contributed to the largest study of its kind to examine the genetic cause of sporadic cases of congenital heart defects. The Utah team is led by Drs. Martin Tristani-Firouzi, Mark Yandell, and H. Joseph Yost, as part of a large national “Bench-to-Bassinet” NIH consortium. The study examined the genomes of 2,871 patients with congenital heart disease who had no known family history of the disorder.

In summary, the researchers determined that rare genetic variations only account for 1.8 percent of congenital heart defects, but are more common in isolated populations, like descendants of Ashkenazi Jews. In addition, recessive genetic variations are enriched in patients with lateral defects, where the heart is offset to the right in the chest cavity. These patients had the highest risk of recurrence of any congenital heart defects. The researchers also identified 12 unique genes in this study that had not previously been associated with congenital heart defects.

Scientists can find inherited rare variations that lead to congenital heart disease even when there is no information about family history. The findings also allow researchers to understand the mechanisms underlying human development, and may be used to improve health care interventions associated with these heart defects. This work was completed as part of the National Heart, Lung, and Blood Institute Pediatric Cardiac Genomics Consortium (PCGC).

The article appears in the October issue of Nature Genetics.