Skip to main content

Study Links Genetic Mutation to Common Aortic Valve Disease

2 min read

By Emily Lockhart

A large international study out of McGill University in Montreal has linked a particular gene mutation with a higher risk of developing a common and likely fatal heart condition that affects between one to 5-percent of individuals, aged 65 and older.

Aortic stenosis is a common type of aortic valve disease. It occurs in approximately 13-percent of individuals, primarily older and of European descent, who produce a type of cholesterol known as lipoprotein(a) or Lp(a).

About a million people in North America are afflicted with the condition, which occurs due to the hardening of the valve that transports blood from the heart.

Symptoms range from shortness of breath and angina to severe heart attacks and the only known treatment for the condition is surgery to replace the valve. However, this is not possible for the majority of elderly patients who are too weak for surgery.

“We prevent heart attacks… in cardiovascular medicine but we don’t prevent valve disease,” says Dr. George Thanassoulis, lead study author, who points out that prescription statin drugs meant to decrease bad cholesterol don’t work against Lp(a), which is responsible for valve disease in the people his group studied.

However, Dr. Thanassoulis suspects that niacin, a B-group vitamin, might prove useful in stalling the severity of aortic stenosis, as niacin is known to lower levels of Lp(a). So the next step for Thanassoulis and his colleagues is a clinical trial to test niacin’s affect on those suffering from this particular gene mutation.

“If we could understand the biology behind this, perhaps we can start to think about treatments and what we need to modify to prevent it,” says Thanassoulis.

Source: Vancouver Sun

Emily Lockhart


Emily Lockhart is a certified yoga instructor and personal trainer. She believes that being healthy is a lifestyle choice, not a punishment or temporary fix to attain a desired fitness or body image goal. Anna helps her clients take responsibility for their own health and wellness through her classes and articles on ActiveBeat.

Health Studies in the News