DNA Links Bicuspid Aortic Valve To Enlarged Aortas
In the past, we have discussed the genetics of heart valve disease. (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 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 from the same doctor, click here.
P.P.S. To leave a comment, please click here.
About The Author: Adam Pick is a double, heart valve surgery patient and author of The Patient’s Guide To Heart Valve Surgery. This unique book integrates the clinical facts of heart valve surgery with the personal experiences of 78 former valve surgery patients to help patients and caregivers better understand the opportunities and challenges of heart valve surgery. To learn more about Adam and his heart valve surgery book, click here.
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June 12th, 2009 at 7:27 am
As the wife of someone with BAV (just discovered recently), I appreciate your Web site very much. I am also a medical librarian, and like the fact that you mention relevant articles for your followers to read.
Could you take it one step further and put the entire citation for the study into the article so people can easily find it to get a copy? As a medical librarian, I can find it quickly, but not everyone may know how to do so.
Thanks!
June 12th, 2009 at 4:30 pm
The BAV in first degree relatives in that study(9.4%) seems a lot lower than others I’ve seen. I thought it was usual to find 25% of first degree relatives of someone with BAV also had one.
As someone with one, I’m wondering why my neither my family doctor nor my cardiologist have recommended I mentioning to my first degree relatives to suggest sceening.