In the past, we have discussed the genetics of heart valve disease ^[1]. (So you know… I, like my Great Uncle Mooney, suffered from a congenital bicuspid aortic valve which needed to be replaced.)

On the topic of heredity and heart valve disease, a new study was just published in the Journal of the American College of Cardiology which suggests that nearly a third of first-degree relatives (siblings, children or parents) of patients with a bicuspid aortic valve ^[2] are likely to have enlarged aortas. This was found even in the absence of any abnormalities of the heart valve itself.

According to the study:

• 32% of first-degree relatives with no heart valve abnormality had significantly larger aortas than expected for age, gender, and body size as compared with no enlargement seen in control patients.

• The study also found that the aortas of the first-degree relatives had abnormal stiffness similar to the patients with congenital bicuspid valve.

“If you know that a relative does have bicuspid aortic valve, then you know that you should be screened,” said study author Kirsten Tolstrup, MD, Cardiac Noninvasive Laboratory, Cedars-Sinai Heart Institute, Los Angeles, California. “Bicuspid aortic valves appear to be a genetic condition that has many different manifestations, so we will be studying the genes.”

This study, conducted among 54 patients with bicuspid aortic valve and 48 first-degree relatives of those patients as well as 45 matched controls found that 32% of apparently healthy first-degree relatives have enlarged aortas; 53% of patients with bicuspid valves had enlarged aortas; and 9.4% of first-degree relatives had aortic valves with only two leaflets.

The findings suggest that patients with bicuspid aortic valve and their first-degree relatives should have a screening echocardiogram to be evaluated for dilated aorta and bicuspid aortic valve.

Interesting study, right?

Keep on tickin!

P.S. To learn more about a father-and-son team that both had aortic valve replacement surgery ^[3] from the same doctor, click here ^[1].