How Marfan Syndrome Affects Your Heart and Blood Vessels

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

According to the Marfan Foundation, Marfan syndrome affects about 1 in every 5,000 people. This condition affects both men and women of all ages and races.

While people are born with Marfan syndrome, the signs and symptoms may not show up until years later. Learn more about how this condition affects the heart and blood vessels.

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What Is Marfan Syndrome?

Marfan syndrome is a rare genetic disorder that affects the body’s connective tissue. Connective tissue supports, connects, or separates the cells, organs, and tissues in your body.

Proteins make up connective tissue, and people with Marfan syndrome have had a change in the gene that controls how their bodies make a protein called fibrillin. This change can affect many parts of the body, including your:

  • Heart and blood vessels
  • Bones and joints
  • Eyes
  • Lungs
  • Skin
  • Nervous system

According to the Marfan Foundation, Marfan syndrome affects about 1 in every 5,000 people. This condition affects both men and women, of all ages and races.

How Does Marfan Syndrome Affect the Heart and Blood Vessels?

Marfan syndrome can make your aorta, your body’s largest artery, stretch and become weak, and can result in:

    • Aortic aneurysm, a bulge or weakened spot in your aorta. This condition does not always have symptoms, but depending on the location of the aneurysm, symptoms can include:
      • Jaw pain
      • Back pain
      • Shortness of breath
      • A pulsing feeling near your belly button, like a heart beat
      • Severe abdominal or back pain that comes and goes
    • Aortic dissection, which happens when your aorta tears and leaks blood. This condition does not always have symptoms, but symptoms can include a sharp, severe pain in your chest, abdomen, or back.

To learn more about Marfan syndrome, visit the UPMC Heart and Vascular Institute or call 1-855-UPMC-HVI (876-2484).

Both aortic aneurysms and aortic dissections are medical emergencies that need immediate attention. If you think you or someone else has one of these conditions, call 911 right away.

Marfan syndrome can also cause mitral valve prolapse, a condition in which the flaps of your heart’s mitral valve become weak, floppy, or unable to close properly. This allows blood to flow backward and can cause symptoms like shortness of breath, heart palpitations, chest pain, and fatigue.

Treatment for Marfan Syndrome

While there is no cure for Marfan syndrome, your doctor can recommend treatments to help keep your risk of serious complications low.

Your doctor may suggest regular heart imaging tests to watch your aorta and heart valves, medicines to help control your blood pressure, and regular follow-up appointments to keep an eye on your overall health. For large aortic aneurysms or acute aortic dissection, surgical repair is required.