Gene May Cause Heart Valve Defect

The mutation could drive aortic valve disease, researchers say

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MONDAY, July 18, 2005 (HealthDay News) -- Researchers have discovered a genetic mutation that causes aortic valve disease, a common birth defect that is a major contributor to adult heart disease.

A team at the University of Texas Southwestern Medical Center at Dallas scanned the DNA of two families afflicted with the heart disorder, one in Dallas and the other in San Diego.

They found that all the relatives with aortic heart disease had a mutation in a gene called NOTCH1, according to an article published in the July 17 online edition of Nature.

The aortic valve is located between the left ventricle of the heart and the largest artery, the aorta. The left ventricle pumps oxygen-rich blood into the aorta, which carries the blood to the rest of the body.

Aortic valve disease can interfere with that blood flow, hampering the heart's ability to supply oxygenated blood to the body and leading to severe calcium buildup on the valve itself.

Study author Dr. Vidu Garg said the genetic research could allow early detection of people disposed to the disorder.

"In the long term, we may be able to use that information to screen those at risk, possibly giving patients the opportunity to make a pharmacological or lifestyle intervention to slow down the progression of the calcification," Garg said in a prepared statement.

More information

The National Institutes of Health have more about heart valve diseases.

SOURCES: University of Texas Southwestern Medical Center, news release, July 17, 2005

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