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Study identifies second gene associated with specific congenital heart defects
Date:4/29/2011

. Research indicates that LVOT defects share a common developmental mechanism, thus they focused on genes from a signaling pathway shown to be important in cardiac development.

Findings showed an association between the gene ERBB4 and LVOT defects. ERBB4 encodes a protein that serves as an "on" or "off" switch in many cellular functions during heart development. The association with LVOT defects was noted not only for the whole group of defects, but also individually for aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome.

"The precise defect in this very large gene is not yet known," said Dr. McBride. "ERBB4 now joins a previously identified gene, NOTCH1, as a susceptibility gene for LVOT defects. Replication of these results in other subjects will be required to better determine its role in the development of the heart malformations."


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Contact: Mary Ellen Peacock
MaryEllen.Peacock@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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