A major study of children born with serious heart defects suggests that at least 10% of cases result from genetic mutations that weren’t inherited from their parents.
Instead, the genetic anomalies arise spontaneously early in prenatal development. Researchers said some of the mutated genes play a critical role in activating or deactivating other genes responsible for the development of the heart.
“This for the first time really establishes that these new mutations account for a significant fraction of this disease,” said Richard Lifton, head of the department of genetics at Yale University School of Medicine and a senior author of the study. The findings were published online Sunday by the journal Nature.
About 40,000 babies, or nearly one in 100, are born in the U.S. each year with congenital heart disease, making it the most common birth defect. About one-third of cases involve life-threatening structural defects to the organ. Surgical advances over the past few decades have enabled the majority of such kids to live well into adulthood, though the repairs often wear out by their 20s and 30s, leading to additional procedures.