Gene Mutations for Rare Heart Disease Also Found in Kids

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"I think it's remarkable that we found mutations in nearly 50 percent of the kids who don't have family histories," Christine Seidman said.

The researchers also analyzed DNA from 11 pairs of parents and found that in seven of those couples, one parent had the same mutation as his or her child. The parents with these mutations believed their hearts were healthy, but echocardiograms revealed thickening of the muscle in some cases.

"We still don't know why the children presented symptoms so much earlier than their parents. We suspect that other genes must influence the disease presentation," Jonathan Seidman said.

Further genetic testing of children with cardiac hypertrophy and their parents may explain this and help doctors select appropriate treatments, the researchers said.

The study was published online April 9 in the New England Journal of Medicine.

More information

The MedlinePlus Medical Encyclopedia has information about hypertrophic cardiomyopathy.