How to obtain your complete diagnosis

The National Marfan Foundation recommends that you visit a medical genetecist to be evaluated for Marfan Syndrome. Medical genetecists are medically trained to recognize the signs and symptoms of rare genetic disorders like Marfan Syndrome.

You can find a medical genetecist in several ways:

1. The National Marfan Foundation maintains a list of U.S. specialty "Marfan" clinics. These clinics typically offer medical genetics services. Visit the NMF's "Finding the Right Doctor" page to learn more and register to receive the list of clinics.

2. Visit the web site of the National Society of Genetic Counselors and use their Counselor Search page to find a genetic counselor by zip code, organization, or area of specialization.

3. Consult with your primary care physician and request a referral to an appropriate doctor.

4. Contact the closest university hospital in your area to see if they offer diagnostic services.

5. (As a last resort), consider attending the National Marfan Foundation's annual conference. The conference includes a free clinic where you can be evaluated for Marfan Syndrome. Demand for the clinic is high, and advance registration may be required.

You may also pursue your diagnosis by visiting a cardiologist, orthopedist, or ophthalmologist who is very familiar with Marfan Syndrome. Before you make your first visit to a doctor to be evaluated for Marfan Syndrome, consider assembling key medical records and your personal and family medical histories. See ((Preparing to Visit a Genetic Clinic for Initial Diagnosis)) for more information.

Tests and diagnostic tools

During your initial appointment to be assessed for Marfan Syndrome, you will be given a thorough physical exam. Certain aspects of Marfan Syndrome are difficult to see with the naked eye, however, so your appointment may include referrals to the following specialized doctors for some or all of the following medical tests:

(See table here, for now)

Tip: Any physician can order imaging studies (x-rays, MRIs, CTs), so if you are having trouble getting a doctor to order a particular test for you, consider consulting with another doctor. For example, your primary care physician may not want to order an upright MRI to check for dural ectasia. If you find yourself in this situation, you may want to consider asking another doctor, such as a chiropractor or neurologist, to order the upright MRI.

Additional resources

How to Find Out if You Have Marfan Syndrome, from the National Marfan Foundation's "Heart of the Matter" fact sheet series.

Marfan Syndrome: Diagnostic Criteria by Body System, from the National Marfan Foundation's "Heart of the Matter" fact sheet series.ontentRequestHandler.do?sub_menu_item_content_id=181&menu_item_id=37|"Heart of the Matter"] fact sheet series.