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 (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.

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

We recommend:

  • Step 1 Find a doctor who is knowledgeable about genetic conditions

    Find a Doctor

    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 because 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 which is comprised of Marfan clinics and aortic centers around the United States. Or you can ask our Help & Resource Center for help in your area.

    Find a Doctor

  • Step 2 Compile your health history

    Compile your health history

    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.

    Download the Form

  • 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 Annual 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.

    Ask a Question

Find a Doctor

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 because 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 which is comprised of Marfan clinics and aortic centers around the United States. Or you can ask our Help & Resource Center for help in your area.

Find a Doctor

Frequently Asked Questions

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

  • 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 doctors.
  • What if you have some features of Marfan syndrome, but the doctor 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 doctors 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 >

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

    If you suspect that you or a family member may have Marfan syndrome or a related condition, we recommend that you:

    • Find a doctor who is knowledgeable about genetic conditions
    • Compile a health history
    • Reach out for information and support