Marfan Syndrome and the Heart

Marfan syndrome is an inherited connective tissue disorder affecting many organs, especially the heart. The disorder can lead to aortic aneurysms, heart valve disease and other heart problems. Marfan syndrome can be life-threatening if it causes an aortic dissection (tear in the aorta). Medication and surgery are the most common treatments.


How does Marfan syndrome affect the heart?

Marfan syndrome is an inherited condition that prevents connective tissue from developing normally. Weakened or damaged connective tissue can affect many parts of your body, especially your heart.

The disorder may cause your aorta (a large artery that carries blood from your heart to the rest of your body) to widen. It can also affect your heart valves (flaps that separate the four chambers of your heart and keep blood flowing in the right direction).

How does Marfan syndrome affect the aorta?

The most common heart conditions Marfan syndrome causes are:

  • Aortic aneurysm (weakened, bulging aorta).
  • Aortic dilation (enlarged aorta).

Aneurysm in the aortic root (part of your ascending aorta, the section closest to your heart) is specific to Marfan syndrome. Aneurysm in other parts of your aorta is more common in other disorders, such as Ehlers-Danlos, Loeys-Dietz, bicuspid aortic valve and Turner syndrome.

How does Marfan syndrome affect the heart valves?

Marfan syndrome can also cause problems with your heart valves. Severe heart valve disease can lead to heart failure. Heart valve diseases related to Marfan syndrome include:

  • Aortic valve regurgitation (leaky heart valve between your aorta and the lower pumping chamber on the left side of your heart).
  • Mitral valve prolapse (loose valve between the upper and lower pumping chambers on the left side of your heart).

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How common are heart problems in people with Marfan syndrome?

It’s very common to have heart problems if you have Marfan syndrome. Disorders of the aorta or heart valves occur in about 9 out of 10 people with Marfan syndrome.

Symptoms and Causes

What are the symptoms of Marfan syndrome affecting the heart?

Symptoms of an aortic aneurysm or valve disease related to Marfan syndrome may include:


What causes Marfan syndrome to affect the heart?

Healthy connective tissue supports and strengthens organs and other structures throughout your body, including the heart and blood vessels. Marfan syndrome prevents connective tissue from growing and developing normally. This makes the tissues in your aorta and heart valves become weak and inelastic. A lack of elasticity can cause your aorta to widen or bulge. It can also result in your heart valves not opening and closing properly.

Diagnosis and Tests

What heart tests can help your healthcare provider diagnose Marfan syndrome?

Marfan syndrome can be hard to diagnose. Symptoms vary widely from person to person and may be similar to those of other health conditions. Many people don’t get a diagnosis until late childhood or adulthood.

If a healthcare provider suspects you have Marfan syndrome, they’ll:

  • Perform a physical exam.
  • Review your family medical history.
  • Do imaging tests, including an echocardiogram and electrocardiogram (EKG).
  • Order genetic testing to find out if you have the gene that causes Marfan syndrome.

Management and Treatment

What treatments can help me manage heart problems related to Marfan syndrome?

There are non-surgical and surgical treatments for heart problems related to Marfan syndrome. A healthcare provider may recommend surgery if you have:

  • An aorta with a diameter of 5 centimeters (1.97 inches) or wider.
  • An aorta that expands at least 0.5 centimeters (0.197 inches) in 1 year (rapid expansion).
  • Biological family members who have undergone repair.

People of smaller stature usually have smaller aortas and may need repair at a smaller diameter.

What non-surgical treatments can help me manage heart problems related to Marfan syndrome?

Non-surgical management of Marfan syndrome may involve:

  • Lifestyle modifications: Avoid any activity that puts extra stress on your heart. People with Marfan syndrome shouldn’t do weightlifting or play high-impact sports such as football or soccer.
  • Medication: Take angiotensin II receptor blockers (ARBs) or beta-blockers, which can help slow the enlargement of your aorta.
  • Regular cardiac imaging exams: Have regular monitoring with computerized tomographic angiography (CTA), transthoracic echocardiography or magnetic resonance angiography (MRA). These tests can help detect aortic enlargement before dissection occurs.

What surgical treatments can help me manage heart problems related to Marfan syndrome?

Heart surgery for Marfan syndrome repairs or replaces damaged parts of your aorta or heart valves. The main goal of surgery is to prevent life-threatening complications such as an aortic dissection. Heart surgery for Marfan syndrome is usually an elective, or planned, procedure. If your aorta tears, you’ll need an emergency procedure to fix it.

There are different types of heart surgery for Marfan syndrome. The most common type of surgery repairs or replaces the aortic root, the most frequent location for dilation or an aneurysm. Heart valve surgery may repair or replace your mitral or aortic heart valves.

Common heart surgeries for Marfan syndrome include:


Can I prevent heart problems if I have Marfan syndrome?

There’s no way to prevent Marfan syndrome or heart problems related to the disease. But you can reduce your risk of a severe problem, such as an aortic dissection, by:

  • Avoiding activities that put excess strain on your heart.
  • Getting regular cardiac imaging exams.
  • Taking all medications as prescribed by your healthcare provider.

If you have Marfan syndrome and are considering getting pregnant, it’s extremely important to talk to your healthcare provider about the risks. Studies show that up to 40% of women and people assigned female at birth (AFAB) with Marfan syndrome have pregnancy-related complications.

Outlook / Prognosis

What’s the outlook for someone with heart problems related to Marfan syndrome?

People with well-managed Marfan syndrome can have an average life expectancy, potentially living into their 70s or 80s. However, the most common causes of death in people with Marfan syndrome are heart-related. It’s essential that you stay in close communication with your cardiologist to monitor the disease and its progress.

Living With

When should I call the doctor?

Get immediate medical attention if you experience any of the following symptoms, which could be signs of a ruptured aortic aneurysm:

  • Loss of consciousness.
  • Nausea and vomiting.
  • Numbness anywhere in your body.
  • Paralysis (inability to move certain parts of your body).
  • Shortness of breath.
  • Sudden and severe pain in your chest, upper back or stomach.
  • Sweating.
  • Unusually pale or cold skin.
  • Weak pulse.

A note from Cleveland Clinic

Marfan syndrome is an inherited disorder that affects the connective tissue in many parts of your body, especially the heart. Going to regular appointments with your healthcare provider will allow them to monitor your condition and catch any issues early. You have the power to make lifestyle changes and take medication for heart problems related to Marfan syndrome. If your provider recommends surgery, talk with them about which kind is best for your situation. Understanding your options helps you make informed decisions.

Medically Reviewed

Last reviewed by a Cleveland Clinic medical professional on 10/04/2022.

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