Marfan Syndrome
Diagnosis

There is not one simple test to make a diagnosis for Marfan syndrome. To find out if someone has Marfan syndrome, the patient needs to be checked for features of the condition. This may mean seeing a number of doctors and undergoing various special tests. The Marfan Clinic staff will determine which special evaluations or doctors a patient needs to see and will coordinate these evaluations. The genetics evaluation in the Marfan Clinic brings together the information from all these different doctors and tests to determine if the person has Marfan syndrome.

To be diagnosed with Marfan syndrome a person must either have several of the features or have just a few of the features but also have a family member with documented Marfan syndrome. Genetic testing can also help with the diagnosis. This is a blood test that looks for a mutation in the FBN1 gene, which is the cause of Marfan syndrome.

If the FBN1 mutation causing Marfan syndrome in a family is known, then other members of the family can be tested for that mutation. This will determine if they have inherited Marfan syndrome.