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Study Suggests First-Degree Relatives of Patients With Bicuspid Aortic Valve Be Screened

LOS ANGELES -- June 10, 2009 -- A study published in the Journal of the American College of Cardiology suggests that nearly a third of first-degree relatives (siblings, children or parents) of patients with Bicuspid Aortic Valve (BAV) 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. "BAV appears 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 BAV had enlarged aortas; and 9.4% of first-degree relatives had BAV.

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.

SOURCE: Cedars-Sinai Medical Center

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