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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.

UPMC experts provide the latest treatments for the heart-related problems of Marfan syndrome.

Looking for Marfan Syndrome Care? 

Related services:

  • Heart and Vascular

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On this page

  • What Is Marfan Syndrome?
  • What Are the Symptoms of Marfan Syndrome?
  • How Do You Diagnose Marfan Syndrome?
  • How Do You Treat Marfan Syndrome? 

What Is Marfan Syndrome? 

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

  • Blood vessels.
  • Eyes.
  • Heart.
  • Joints.
  • Skeleton.

Some people develop enlarged aortas, which can be life-threatening.

People with Marfan syndrome are usually tall and thin and have long limbs and fingers. Marfan syndrome is present at birth and tends to worsen with age.

How common is Marfan syndrome?

Marfan syndrome is a rare disorder that affects 1 in 5,000 people in the U.S.

What causes Marfan syndrome?

Marfan syndrome is caused by a genetic mutation that limits the body’s ability to make proteins that build connective tissue.

What are Marfan syndrome risk factors and complications?

Marfan syndrome risk factors

If you have a parent with Marfan syndrome, you have a 50 percent chance of developing it yourself. Although about 25 percent of people develop Marfan syndrome for unknown reasons, it is most commonly passed from parent to child.

Complications of Marfan syndrome

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

  • Early onset of common eye problems such as macular degeneration.
  • Heart and aortic problems, including:
    • Heart valve problems.
    • Aortic aneurysm.
    • Aortic dissection.
  • Nearsightedness.
  • Problems with bones and connective tissues.

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

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What Are the Signs and Symptoms of Marfan Syndrome?

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

What are four symptoms of Marfan syndrome?

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

When should I see a doctor about my Marfan syndrome symptoms?

If you have a parent who has been diagnosed with Marfan syndrome, you should see your doctor for a screening test.

If you have been diagnosed with Marfan syndrome, you should see your doctor if you notice any common symptoms of heart problems, such as:

  • Abdominal pain due to an enlarged liver (if there is tricuspid valve malfunction).
  • Chest pain.
  • Dizziness.
  • Fatigue.
  • Low or high blood pressure, depending on the type of valve disease.
  • Migraine headaches.
  • Palpitations caused by irregular heartbeats.
  • Shortness of breath.

If your symptoms are sudden or severe, dial 911 or visit your nearest hospital emergency department.

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How Do You Diagnose Marfan Syndrome?

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.

What to expect during your visit

During your physical exam, your doctor will:

  • Ask about your symptoms and when they started.
  • Discuss your medical and family history.
  • Listen to your heart with a stethoscope.

Tests to diagnose Marfan syndrome

Our experts use the latest diagnostic tests to learn about your heart valve condition, including:

  • CT angiogram – A CT angiogram is an imaging test that looks at the arteries that supply your heart muscle. Unlike a cardiac catheterization procedure, this test uses a powerful x-ray machine to produce images of your heart and heart vessels.
  • Echocardiogram (Echo) – This noninvasive ultrasound test uses sound waves to evaluate your heart's chambers and valves. The echo sound waves create an image on a monitor as an ultrasound transducer is passed over your heart.
  • Eye tests – Your doctor may order eye tests to check for signs of glaucoma or macular degeneration.
  • Magnetic resonance imaging (MRI) – MRI is a diagnostic procedure that uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within the body.
  • Two-dimensional echocardiogram (2D Echo) – This test uses ultrasound to display a cross sectional "slice" of your beating heart, including the chambers, valves, and the major blood vessels that exit from the left and right part of your heart.

Marfan syndrome prognosis

Since Marfan syndrome is an inherited condition, there's no cure. However, your doctors can help you manage it. Your doctor will discuss your prognosis with you.

What is the life expectancy of Marfan syndrome?

Medical advances and increased awareness of Marfan syndrome have improved the life expectancy for people with Marfan syndrome. With proper medical treatment, most people with Marfan syndrome have an average life expectancy.

Can you live a normal life with Marfan syndrome?

You will need ongoing medical care after you are diagnosed with Marfan syndrome. However, most people live active and fulfilling lives.

What is the most common cause of death in Marfan syndrome?

Problems with the aorta — such as aortic aneurysm or dissection — are the most common cause of death in people with Marfan syndrome.

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How Do You Treat Marfan Syndrome?

Marfan syndrome affects many areas of your body, so you will need to see multiple medical specialists to manage your condition. To reduce the risk of heart complications, your doctor may recommend:

Follow-up medical care

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

Medicine to treat Marfan syndrome

Marfan syndrome treatment often includes blood pressure medicine to reduce the strain on your aorta.

Surgery for Marfan syndrome

Many people with Marfan syndrome eventually need preventive surgery to repair the aorta if it affects the heart. Surgical procedures for aortic disease caused by Marfan syndrome include:

  • Aortic aneurysm open repair – This procedure is performed through a surgical incision and uses a graft to redirect blood flow around the part of the aorta where the aneurysm, or bulge, is located.
  • Emergent (emergency) aortic dissection repair – During an emergent aortic dissection repair, your surgeon will remove the largest possible area of dissected aorta, block the entry of blood into your aortic wall, and replace your aorta with a synthetic graft.
  • Endovascular thoracic and abdominal aortic aneurysm repair (EVAR/TEVAR) – These procedures are performed through a small incision in your groin using a catheter and a stent graft to prevent the bulge in the aorta from rupturing.

How effective is treatment?

Early diagnosis and treatment for Marfan syndrome can effectively manage symptoms and reduce the risk of heart-related complications.

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Why Choose UPMC for Marfan Syndrome Care?

Our vascular specialists provide expert treatment of aortic disease, including complex aortic aneurysms and aortic dissections, using the latest techniques. Our goal is to provide dedicated care to patients with Marfan syndrome and other causes of aortic disorders.


By UPMC Editorial Staff. Last reviewed on 2024-10-01.

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