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Frequently Asked Questions (FAQ's)

Can you tell me if I am at risk of getting a bicuspid aortic valve?
No. You were either born with a bicuspid aortic valve or not. The most reliable way to tell if you have a bicuspid valve is to have a test such as a cardiac echo (ultrasound). This is easily obtained by contacting your Family Physician or Cardiologist. Please discuss this with your medical practitioner.

Can you tell me if I am at risk of getting a thoracic aortic aneurysm or dissection?
No. If you have a bicuspid aortic valve you are at an increased risk of developing a thoracic aortic aneurysm or dissection over time. The most reliable way to tell if you have one is to have a test such as a cardiac echo (ultrasound). This is easily obtained by contacting your Family Physician or Cardiologist. If you have a bicuspid valve, he or she may wish to get regular cardiac echoes to monitor for its development.

Can you tell me if my unborn children will have a bicuspid aortic valve?
No. At this stage there is no genetic test for aortic valve disease. We predict that this sort of test is still a long way off and it is not a specific focus of our research.

I have a bicuspid aortic valve. Should my children have a cardiac echo?
In general, a bicuspid aortic valve does not cause problems in childhood. However, if you have any concerns at all, you should discuss this with your Family Physician or Cardiologist.

Will you give me back the results of my genetic tests?
There is one scenario in which we will give you back the results of your personal genetic tests. In the future, we may identify a gene that is associated with thoracic aortic aneurysm development or aortic dissection. If so, we will notify you of your results if you have the gene. This is because if you are at risk of either of these diseases, you should contact your Family Physician or Cardiologist to tell them of this result. Your Family Physician or Cardiologist may wish to get regular cardiac echoes to monitor for its development. Please bear in mind that this result may only indicate an increased risk of getting these diseases, not that you will definitely get them.
A similar analogy is that smokers are at increased risk of lung cancer. Not every smoker will get lung cancer and some non-smokers will get lung cancer. It is important to appreciate that the risk of lung cancer is increased with smoking but it is not certain that every smoker will get lung cancer.

I have had my bicuspid aortic valve replaced already. Can I still be involved in the research?
Yes. You still have the same genetic makeup that originally caused the bicuspid aortic valve, so we can still study the genetic cause of bicuspid aortic valve disease using your DNA. If you wish to be involved in the study, we will ask your Surgeon for information about the valve that was removed at surgery. Rest assured, you cannot grow another bicuspid aortic valve. However, even if you have a bicuspid aortic valve removed, you may be at an increased risk of developing a thoracic aortic aneurysm or dissection over time. The most reliable way to tell if you have one is to have a test such as a cardiac echo (ultrasound). This is easily obtained by contacting your Family Physician or Cardiologist. He or she may wish to get regular cardiac echoes to monitor for its potential development.

Do I have to come in to the hospital for any visits?
No. Everything for this study is conducted by mail. When you tell us you are interested in the study we will mail you a Consent Form and Medical History Questionnaire. When you have returned those completed forms to us, we will mail you a saliva collection kit. You spit into the tube and mail it back to us. That is the extent of what is required to participate.

BAV Genetics

email: contact@bav-genetics.org

Simon C. Body, MD, MPH
Brigham and Women's Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

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