New Gene Linked to Heart Defects

By Dawn Calderon, D.O.
Adult Congenital Cardiology
Jersey Shore University Medical Center

According to a study conducted at Nationwide Children’s Hospital, in Columbus, Ohio, a gene essential to cardiac development may be associated with some serious congenital heart defects associated with the left ventricular outflow tract (LVOT).

One in 125 babies born in the United States has congenital heart disease- or a malformation of the heart involving the heart chambers, valves or major blood vessels that is present at birth.

“Congenital heart disease (CHD) is the most common birth defect, and can range from simple to complex,” says Dawn Calderon, D.O., Director of the Adult Congenital Heart Program at Jersey Shore University Medical Center.  “Through medical advances, many people with congenital heart disease live full and healthy lives.”

It is unclear how cardiac defects of the LVOT develop. But this new research suggests a genetic component may play a role, revealing a new link between the gene ERBB4 and specific LVOT defects. Researchers said the ERBB4 gene encodes a protein that serves as an "on" or "off" switch in many cellular functions during heart development.

“Research suggests that more than 500 genes may play a role in heart development," Dr. Calderon states. "Changes in any of these genes may impact how a baby’s heart forms.”

The study, which appears in the journal Birth Defects Research Part A, will seek duplication of these results in other subjects to better determine genetics’ role in the development of heart malformations.

The LVOT defects include a narrowing of the aorta, a large blood vessel that branches off the heart, which causes it to pump abnormally hard (coarctation of the aorta) and a narrowing of the heart's aortic valve that obstructs normal blood flow (aortic valve stenosis).

To learn more about Congenital Heart Disease, visit the American Heart Association at