Findings clarify genetic puzzle in heart condition that affects thousands of newborns each year.
Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don’t understand what causes them or how to prevent them.
Although genetic factors contribute to congenital heart disease, new research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents and siblings of affected children, suggesting that new mutations that arise spontaneously—known as de novo mutations—might contribute to the disease.
“Until recently, we simply didn’t have the technology to test for this possibility,” said Richard Lifton, chair of the department of genetics at Yale School of Medicine.
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