FAQ about Genetics

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

Family history is the most important tool to help evaluate a family for FTAAD.  If you have, or have had a thoracic aortic aneurysm or dissection, OR have a family history of aortic aneurysm or dissection: 

  1. Talk to your primary care provider or a local genetics professional about your risk, the risk to your family members, and to determine if the thoracic aortic disease is due to a genetic syndrome.  You may also CONTACT US to discuss your family history.
  2. 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?

We are not sure what the best age is to start imaging young children.  In very rare cases, children have had aortic dissection as young as 12 years old; therefore we recommend a baseline imaging by echocardiogram for children when the child can sit still.  Echocardiogram is usually sufficient to see the ascending aorta and aortic arch in young children.

We are willing to help you find out what screening you should have.  Please CONTACT US.  However, we do not provide primary medical care or primary genetic counseling.  We will provide advice based on families that we have seen in our own clinic to be provided to your physician, geneticist, or cardiologist or we can help you get in touch with the correct doctors or genetics professionals in your area.

What happens when an aneurysm is found?

Early detection is the key.  Aneurysms involving the ascending aorta that are detected early can be monitored and medical therapy initiated.  Eventually the aneurysm needs 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 cardiologists and cardiovascular surgeon will determine the optimal treatment of your aortic aneurysms.

I have a family history of aortic dissections and I want to get involved.  What can I do?

Please visit our research page to read about our research studies.  You can download our research study brochure here.

In addition, a gift to the JRRP helps make it possible for the dedicated staff to accelerate their research into the genetic causes of the thoracic aortic diseases.

 


 

 

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