Spontaneous Gene Mutations Linked to Kids' Heart Defects

Newborn Baby
(Image credit: Dreamstime)

Mutations in genes that occur spontaneously may contribute to congenital heart disease in children, according to a new study.

These mutations — which arise after conception, rather than being inherited from a parent — may contribute to about 10 percent of cases of congenital heart disease in children, the study said.

Congenital heart disease is a group of heart defects (such as holes, or missing parts of the heart), and is the most common type of birth defect in the United States. About 40,000 babies are born each year with congenital heart disease.

While some chromosomal abnormalities (such as Down syndrome) and infections during pregnancy are known to cause congenital heart disease, the new study shows that spontaneous gene mutations during fetal development affect the development of brain and heart, and may lead to congenital heart disease in children with healthy parents.

In the study, researchers looked at the rate of spontaneous mutations in 362 children with severe congenital heart disease, 264 healthy children and parents of both groups.

Although children in both groups had about the same number of spontaneous mutations, the locations of those mutations were markedly different in the two groups, according to the study that was published online in the journal Nature yesterday (May 12).  

"The mutations in patients with congenital heart disease were found much more frequently in genes that are highly expressed in the developing heart," said study researcher Christine Seidman, a Howard Hughes Medical Institute investigator.

This finding provides insights for future research, and may someday lead to better treatment options, the researchers said.

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Bahar Gholipour
Staff Writer
Bahar Gholipour is a staff reporter for Live Science covering neuroscience, odd medical cases and all things health. She holds a Master of Science degree in neuroscience from the École Normale Supérieure (ENS) in Paris, and has done graduate-level work in science journalism at the State University of New York at Stony Brook. She has worked as a research assistant at the Laboratoire de Neurosciences Cognitives at ENS.