Mutations that change your heart and your brain

Thirteen percent of newborns with congenital heart disease (CHD) also have congenital abnormalities that don't affect the heart. This is twice the rate at which they appear in newborns without heart problems. Infants with CHD are also at an increased risk of neurodevelopmental disorders later in life, like motor, social, language, and cognitive impairments.

These elevated risks were thought to be caused by poor circulation during gestation or the stresses imposed by postnatal therapies. But a new study suggests that both types of abnormality are actually due to mutations in genes highly expressed in the developing heart and brain. Results are published in Science.

Researchers looked at the protein-coding DNA (called the exome) of 1,213 babies with CHD and their unaffected parents. The results were compared to 900 control babies and parents. They looked for new mutations that appeared only in babies with CHD, babies with CHD accompanied by extracardiac congenital abnormalities, babies with CHD and neurodevelopmental disabilities, or both.

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