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 Aortic Disease, our experts provide the latest treatments for the heart-related problems of Marfan syndrome.
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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.
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 affects many organs and systems throughout the body, including the:
Some people have enlarged aortas, which can be life threatening.
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.
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People with Marfan syndrome tend to have a variety of distinctive physical features, mostly related to the skeleton, like:
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:
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.
