6 doctors weighed in:

I think I have Marfan syndrome, what should I do?

6 doctors weighed in
Dr. Robert Kwok
Pediatrics
4 doctors agree

In brief: Doctors can evaluate

A person who may have marfan syndrome should see his doctor and a geneticist to confirm the diagnosis.
If confirmed, he can get more information from the national marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc...

In brief: Doctors can evaluate

A person who may have marfan syndrome should see his doctor and a geneticist to confirm the diagnosis.
If confirmed, he can get more information from the national marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc...
Dr. Robert Kwok
Dr. Robert Kwok
Thank
Dr. Steven Neish
Pediatrics - Cardiology

In brief: Geneticist

There are definite criteria for the diagnosis of marfan syndrome (ghent criteria).
Most (but not all) people with classic marfan syndrome will have an identifiable mutation on the fibrillin gene on gene testing. There are also other diseases that mimic some features of marfan syndrome. If you are worried about marfan, you should see an expert in the diagnosis of marfan and related disorders.

In brief: Geneticist

There are definite criteria for the diagnosis of marfan syndrome (ghent criteria).
Most (but not all) people with classic marfan syndrome will have an identifiable mutation on the fibrillin gene on gene testing. There are also other diseases that mimic some features of marfan syndrome. If you are worried about marfan, you should see an expert in the diagnosis of marfan and related disorders.
Dr. Steven Neish
Dr. Steven Neish
Thank
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