Know the Signs, Fight for Victory

Marfan, Loeys-Dietz, VEDS, and Related Conditions

Marfan, Loeys-Dietz (LDS), and Vascular Ehlers-Danlos syndrome (VEDS) are genetic conditions that affect the body’s connective tissue and as a result cause weakening of the arteries. Because connective tissue is everywhere, eyes, bones, joints and lungs can also be affected.

Marfan, LDS, VEDS, and some related conditions are serious and complications can be potentially life-threatening. Because of some similarities between conditions, affected people struggle with the same or similar physical problems. It is important to get an early and accurate diagnosis to learn about recommended treatments, be prepared for surgery and take special precautions for physical activity and other situations like pregnancy. Although there is no cure for for these conditions, advances in medical care are helping people live a normal lifespan. 

Explore the Links Below to Learn More About Genetic Aortic and Vascular Conditions and How They Are Treated and Cared For

Getting Diagnosed with a Genetic Aortic Condition

All genetic aortic conditions are serious, potentially life-threatening conditions, and an early, accurate diagnosis is essential. These conditions can shorten lives, particularly when they go unchecked. The can also deeply affect the quality of life of the individuals and families who must cope with them.

A diagnosis can often be made after exams of several parts of the body by doctors experienced with genetic aortic and vascular conditions, including:

  • A detailed medical and family history.
  • A complete physical examination.
  • 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.
  • Other tests, such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) to scan the additional arteries.
  • Genetic testing can provide helpful information in some cases.

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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 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.

    Download Our Directory of Medical Institutions

  • 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.

Download Our Directory of Medical Institutions

Emergency Preparedness

Following your doctor’s recommendations for medication, monitoring, and physical activity gives you the best chance of avoiding a serious complication of Marfan syndrome or any of the related conditions. Still, there are no guarantees. That’s why it’s important for you to learn about the medical problems that could arise and require immediate medical treatment.

The most serious of these problems involve the heart and blood vessels, but there are other problems involving the eyes and lungs that also need emergency treatment.

To help prepare you for these situations, we recommend that you complete our Emergency Preparedness Kit, which we created specifically for people with Marfan syndrome and related conditions. It includes our Emergency Alert Card which you can download and carry in your wallet. You can click below to download them.