Nationwide Children’s Hospital Study Identifies Second Gene Associated with Specific Congenital Heart Defects

Nationwide Children's Hospital -- A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted by Nationwide Children’s Hospital and appearing in the journal Birth Defects Research Part A.

Left ventricular outflow tract (LVOT) malformations, including aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome, Shone complex and interrupted aortic arch type A, are responsible for a major portion of childhood death from congenital heart malformations. Yet it is often unclear how these defects develop.

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