Conducted through the National Heart, Lung and Blood Institute (NHLBI) supported Pediatric Cardiac Genomics Consortium, the international, multi-collaborative research effort looked at more than 600 child-parent trios. Of those, 362 had a child with congenital heart disease and 264 did not. With the help of state-of-the-art sequencing genome mapping techniques, researchers analyzed the genetic sequencing and expression of all children.
Results indicated that children with congenital heart disease had a greatly increased rate of spontaneous mutations among genes that are highly expressed, or active, in the heart. About 10 percent of those were associated with spontaneous mutations (de novo) that occur during fetal development. Many of the involved genes affect a specific biological pathway that is critical to certain aspects of human development, including development of the brain and the heart. This pathway also controls and regulates gene expression.
This new knowledge may help to provide some insight to how this particular birth defect develops, and even when it takes place. And it is this knowledge that researchers hope to expand on. If they are successful in their efforts, researchers could possibly prevent congenital heart disease during the early stages of heart formation – before the defect even starts – which could save the lives of thousands of newborns and infants.
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