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Marfan Syndrome

Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. It can cause serious, even life-threatening problems in the aorta and heart valves.

At the UPMC Center for Thoracic Aortic Disease, our experts provide the latest treatments for the heart-related problems of Marfan syndrome.

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Contact the UPMC Heart & Vascular Institute

For an appointment or consultation with an adult congenital heart disease expert, please call 412-692-3158 or email ACHD@upmc.edu.

If you believe your condition has affected your aorta, or that you might need surgery, please contact the UPMC Center for Thoracic Aortic Disease by calling 412-647-7070 or emailing AorticCenter@upmc.edu.

What Is Marfan Syndrome?

Marfan syndrome is a very rare genetic disorder that affects connective tissue throughout the body, including in the heart.

People with this syndrome usually are tall and thin and have long limbs and fingers. It's present at birth and tends to worsen with age.

Marfan syndrome risk factors and causes

Marfan syndrome affects many organs and systems throughout the body, including the:

  • Heart
  • Blood vessels
  • Skeleton
  • Joints
  • Eyes

Some people have enlarged aortas, which can be life threatening.

Marfan syndrome complications

Because Marfan syndrome affects many structures of the body, complications can be wide-ranging and may include:

Regular medical monitoring is necessary, especially if Marfan syndrome affects the heart and aorta.

For an appointment or consultation with an adult congenital heart disease expert, please call 412-692-3158 or email CardioACHD@chp.edu.

If you believe your condition has affected your aorta, or that you might need surgery, please contact the UPMC Center for Thoracic Aortic Disease by calling 412-647-7070 or emailing AorticCenter@upmc.edu.

Follow the beat for a healthier life with our blog post: NCAA Athlete Isaiah Austin Dreams Despite Marfan Syndrome Diagnosis

Marfan Syndrome Symptoms and Diagnosis

Marfan syndrome symptoms

People with Marfan syndrome tend to have a variety of distinctive physical features, mostly related to the skeleton, like:

  • Long limbs
  • A tall, thin build
  • A chest that sinks in or curves out
  • A curved spine
  • Crowded teeth

Marfan syndrome diagnosis

Doctors diagnose many people with Marfan syndrome at a young age. Sometimes it can be hard to diagnose since it impacts such a wide range of organs.

If a close relative has the condition, diagnosis may be easier. Genetic testing will help confirm the diagnosis.

Testing may involve:

  • Echocardiogram
  • Ultrasound imaging
  • CT scan
  • MRI
  • Eye tests, such as a glaucoma test

For an appointment or consultation with an adult congenital heart disease expert, please call 412-692-3158 or email CardioACHD@chp.edu.

If you believe your condition has affected your aorta, or that you might need surgery, please contact the UPMC Center for Thoracic Aortic Disease by calling 412-647-7070 or emailing AorticCenter@upmc.edu.

Marfan Syndrome Treatment

Since Marfan syndrome is an inherited condition, there's no cure. But, doctors can help you manage it.

Treatment often includes blood pressure medicine to reduce the strain on your aorta.

You'll need regular appointments with your doctor. He or she will check your condition and the health of your impacted organs.

Many people with Marfan syndrome eventually need preventive surgery to repair the aorta if it affects the heart.

Make an appointment for Marfan syndrome treatment

For an appointment or consultation with an adult congenital heart disease expert, please call 412-692-3158 or email CardioACHD@chp.edu.

If you believe your condition has affected your aorta, or that you might need surgery, please contact the UPMC Center for Thoracic Aortic Disease by calling 412-647-7070 or emailing AorticCenter@upmc.edu.