Researchers find link between congenital heart defects and neurodevelopmental defects in children
Although these mutations are found in the eggs of the mother and sperm of the father, as well as in fertilized cells, they are part of the genetic makeup of the child only -- not of either parent.
These findings are important, structural defects of the heart are the most common birth defect in the U.S., as well as one of the most frequent causes of infant mortality.
The study was partially funded by the National Heart, Lung and Blood Institute's (NHLBI) Bench to Bassinet Program. It was published Dec. 4 in the medical journal Science.
“The risk of developing neurodevelopmental disabilities is so high when these particular gene mutations are present that we might consider testing for them in all patients with congenital heart disease,” Dr. Jonathan Kaltman, one of the study's researchers, said.
Although surgery is often done to repair the heart, a significant number of children born with these birth defects have trouble once they reach school age with neurobehavioral issues, including attention deficit and hyperactivity disorders.
"This finding was especially high in patients who had congenital heart disease and another structural birth defect and/or a neurodevelopmental abnormality,” Dr. Christine Seidman, the study's lead investigator, said. “When the consortium examined the specific genes involved, many of them were highly expressed in both the developing heart and brain, suggesting that a single mutation can contribute to both congenital heart disease and neurodevelopmental abnormalities.”
More information on this and other NHLBI studies is available online at www.nhlbi.nih.gov.
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