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Marfan and Thoracic Aortic Aneurysm Clinic directors Juan M. Bowen, M.D., internist and consultant in cardiovascular diseases, and Alberto Pochettino, M.D., cardiovascular surgeon, discuss Marfan syndrome symptoms, diagnosis, and treatment options, including optimal timing for thoracic aorta repair. A live question and answer session followed the presentation.
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Can you talk about normal growth/BMI assessment for Marfan pts? I am a dietitian who has seen some under wt Marfan pts.
If someone is diagnosed with Vascular Ehlers-Danlos Syndrome can or should the person have aorta repair?
How does pectus excavatum factor into the risk of aorta dissection? What are the risks/benefits of repairing the pectus excavatum?
When will the aortic enlargement show , at what age does it start to show?
What should I do if my insurance won't cover genetic testing?
Dr. Deyle, My daughter has dislocation of lenses and we have gone through testing including genetic testing to see if it is related to Marfan Syndrome. Cardiology came back negative, she has no issues for now. However her FBN1 gene came back as a variant. As her parents, we did the blood work and we have not carried it. She is healthy girl, but based on what we know for now, can you confirm this is related to Marfan syndrome, or related to another syndrome?
My daughter is 12 years old. Can she still participate in sports and activities with her friends?
What are the chances of Aortic issues occurring for a 5 year old who has the genetic mutation with no family back ground but a loose lens in one eye. in usual cases? currently there are no issues. Parents don't have marfan. can genetic testing identify that?
There hasn't been a medication to replace Coumadin yet? The blood tests and adjusting medication is a lot of trouble.
What are the spinal and neurological impacts of Marfan Syndrome?