Know the Signs, Fight for Victory

How is Marfan Syndrome Diagnosed?

A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue conditions, including:

  • A detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death.
  • A complete physical examination.

You should also have tests to identify Marfan features that are not visible during the physical exam, including:

  • Echocardiogram. This test looks at your heart, its valves, and the aorta (the blood vessel that carries blood from the heart to the rest of the body).
  • Electrocardiogram (EKG). This test checks your heart rate and heart rhythm.
  • An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
  • Genetic testing may be helpful when a diagnosis cannot be determined by clinical evaluation only. Additionally, for individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.
Learn More About Genetic Testing

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What should you do if you think you might have Marfan syndrome or a related condition?

We recommend:

  • Step 1 Find a healthcare professional who is knowledgeable about genetic conditions

    Find Care

    A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).

    If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist. They are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists.

    The Marfan Foundation can help. We have a directory of medical institutions* comprised of Marfan clinics and aortic centers around the United States. You can also contact our Help & Resource Center for help in your area by visiting Marfan.org/Ask or calling 800-8-MARFAN (800-862-7326). Or, you can attend the Foundation’s in-person conference which provides free health assessments conducted by the nation’s experts in Marfan syndrome and related conditions.

    View Our Directory of Medical Institutions

    Ask a Question

  • Step 2 Compile your health history

    Compile your health history

    Pull together a detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death.

    Gathering Your Family Health History

  • Step 3 Reach out for information and support

    Reach out for information and support

    We offer many ways for you to receive information and support, both online and in person. We have virtual support groups and special offerings for people of all age groups, including teens and those in our community who are 50+. And our events, such as our Conference and Walks for Victory, provide an opportunity to connect with the greater Marfan and related conditions community. We are here for you. You are not alone.

    Find a Virtual Support Group

    Learn About Conference

    Check Out Our Walks

     

     

Find Care

A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).

If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist. They are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists.

The Marfan Foundation can help. We have a directory of medical institutions* comprised of Marfan clinics and aortic centers around the United States. You can also contact our Help & Resource Center for help in your area by visiting Marfan.org/Ask or calling 800-8-MARFAN (800-862-7326). Or, you can attend the Foundation’s in-person conference which provides free health assessments conducted by the nation’s experts in Marfan syndrome and related conditions.

View Our Directory of Medical Institutions

Ask a Question

Frequently Asked Questions

Have a question that wasn’t answered? Contact our Help & Resource Center by submitting a question via the link below.

Ask a Question

  • Is there a genetic test for Marfan syndrome?

    Genetic testing can provide helpful information in some cases.

    • For individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.
    • Some of the features of Marfan syndrome can be found in disorders related to Marfan syndrome; therefore, genetic testing may be helpful when a diagnosis cannot be determined through an exam by healthcare professionals.

  • How can you find a knowledgeable geneticist in your area?

    The American College of Medical Genetics has a medical genetics database you can use to find a knowledgeable geneticist in your area. Helpful search terms include:

    • Connective tissue
    • Bone/skeletal disorders
    • Cardiovascular/connective tissue
    • Adult congenital heart disease
    • Adult medical genetics
    • Pediatric genetics
    • Genetic counseling

  • What if you have some features of Marfan syndrome, but a healthcare professional says you don't have Marfan syndrome?

    It is possible for you to have one or more features of Marfan syndrome, but not enough for you to have a Marfan syndrome diagnosis. You may need additional exams by other healthcare professionals and additional genetic testing to see if you have a condition that is related to Marfan syndrome. Read about the conditions related to Marfan syndrome and how each is diagnosed.

    More information is available in our resource, Genetic Testing and Marfan Syndrome >

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Disclaimer

The Marfan Foundation (the “ Foundation”) is a health advocacy organization. The Foundation does not provide medical advice or treatment. We are not a healthcare provider. It is important to realize that information provided by the Foundation is not meant as a replacement for proper care from a doctor, therapist, etc. Information provided by the Foundation is not a substitute for medical treatment or psychological care. It is vital that you talk with your healthcare providers regarding the diagnosis and treatment of Marfan syndrome and related disorders and your symptoms/features. Minors should consult with a parent/legal guardian when considering treatment and providers.

Healthcare provider information is supplied solely by the providers themselves and is not checked or warranted by The Marfan Foundation. The Foundation provides contact information for healthcare providers who are known to have seen patients with Marfan syndrome and related conditions. The Foundation does not endorse or recommend individual health care providers. You are responsible for interviewing and selecting the practitioner. By requesting health care provider resources you understand and agree that the Foundation and its affiliates are not responsible for any providers’ services or lack thereof.

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