FAQ about Genetics

What should I do if I think that I or a family member may have FTAAD?

If you have a personal or family history of TAAD, talk to your doctor to obtain a referral to a geneticist or genetic counselor. Clinical genetic testing of these genes is available through a DNA diagnostic lab. To find a local genetics provider in your area, visit the National Society of Genetic Counselors website.

Family members at risk for inheriting a predisposition for TAAD need aortic imaging.  First-degree relatives (parents, siblings, and children) of individuals with an aortic aneurysm or dissection should undergo aortic screening by echocardiogram (an ultrasound of the heart).  Tell your physician that you need aortic screening that includes the ascending aorta.  If good visualization of the ascending aorta cannot be achieved with echocardiogram, consider CT or MRI.

When should children be screened?

Screening of children should be completed if there is an underlying genetic disorder or family history. Echocardiogram is usually sufficient to see the ascending aorta and aortic arch in young children. Talk to your child’s primary care physician or cardiologist about the recommended frequency and timing of imaging.

What happens when an aneurysm is found?

Early detection is key.  Aneurysms involving the ascending aorta that are detected early can be monitored and medical therapy initiated.  In some cases, the aneurysm may need to be surgically repaired to prevent life-threatening events such as an acute aortic dissection or rupture of the aorta.

If caught early, the life expectancy of someone with a thoracic aortic aneurysm should approach that of the general population. Your cardiologist and cardiovascular surgeon will determine the optimal treatment of your aortic aneurysms.

For more information on our research studies, please visit our Research page or download our research study brochure here.




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