Researchers find a genetic marker for aortic valve disease

February 7, 2013 by MassDevice staff

A research consortium tracks down a genetic variant that doubles the risk of buildup in the aortic valve that can cause heart failure, stroke and sudden cardiac death.

cardiovascular system illustration

A team of researchers have pinpointed a gene that may be responsible for double a patient's risk of calcium buildup in the aortic valve, a condition linked with heart failure, stroke and sudden cardiac death.

The finding may lead to new research and therapies, which are very limited for patients with narrowing, or stenosis, of the aortic valve.

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"No medications tested to date have shown an ability to prevent or even slow progression of aortic stenosis, and treatments are limited beyond the major step of replacing the aortic valve," study co-author Dr. Christopher O'Donnell said in prepared remarks. "By identifying for the first time a common genetic link to aortic stenosis, we might be able to open up new therapeutic options."

The Cohorts for Heart & Aging Research in Genomic Epidemiology study, funded by the National Institutes of Health, analyzed 2.5 million known genetic variants in a group of nearly 7,000 white participants, according to the report. Researchers followed up with an analysis of 6,000 additional participants, including subjects from African American, Hispanic and Chinese backgrounds, further confirming the connection between the gene variant and aortic valve calcification.