Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a genetic disorder that weakens the body’s connective tissue which can affect how the heart and blood vessels work. If Marfan syndrome affects the aorta the main blood supplier to the body it can be life threatening.

Baptist Health is known for advanced, superior care for patients with heart disease and the diagnosis, management and treatment of Marfan syndrome. You will appreciate timely appointments and a professional, friendly atmosphere where we take time to listen to your concerns. At Baptist Health, you have access to the region’s most comprehensive, multidisciplinary team of specialists and innovative therapies, including many available only through specialized clinical trials. In every way, we work to demonstrate the utmost in excellent care to those who trust us with their health.

Signs and Symptoms

Signs and symptoms of Marfan syndrome vary. People with Marfan syndrome may have some or all of the following features:

  • A breastbone that protrudes outward or depresses inward
  • An arched palate and crowded teeth
  • Curved spine
  • Extreme nearsightedness
  • Flat feet
  • Heart murmur
  • Tall and thin build
  • Very long arms, legs and fingers


Symptoms of Marfan syndrome can also be symptoms of other conditions. Because Marfan syndrome can affect the heart, we will ask questions about your medical history, do a physical exam and use advanced technology to determine if there are any problems with the heart. Common diagnostic procedures can include:

Chest X-ray: A common imaging test of the lungs, heart and aorta.

Computed tomographic angiography (CT):This non-invasive test can show the arteries in the abdomen, pelvis and legs. This test is particularly useful in patients with pacemakers or stents.

Echocardiogram: This ultrasound exam uses soundwaves to take moving pictures of the heart’s chambers and valves.

Electrocardiogram (EKG): This test measures the electrical activity of the heart and can help determine if parts of the heart are enlarged, overworked or damaged. The heart’s electrical currents are detected by 12 to 15 electrodes that are attached to the arms, legs and chest via sticky tape.

Magnetic resonance imaging (MRI):A large magnet, radio waves and a computer are used to produce pictures of the heart and blood vessels.


Marfan syndrome is caused by a defect in the gene that controls how fibrillin is produced. Fibrillin is an important component that gives connective tissue elasticity and strength. Most often, Marfan syndrome is inherited from a parent who has the condition. But sometimes, a person can be the first in their family to have the condition.

Risk Factors

The greatest risk for Marfan syndrome is having a parent with the condition.


There is no known way to prevent Marfan syndrome.


Early diagnosis, interventional treatment and regular follow up help people with Marfan syndrome to live active, long lives.

Treatment and Recovery

Treating the effects of Marfan syndrome requires an individualized treatment plan, regular follow-up and cardiovascular tests. Treatment can include:


Because Marfan syndrome can weaken blood vessels, your doctor may prescribe a beta-blocker or calcium channel blocker to decrease the forcefulness of the heartbeat and the pressure within the arteries, and reduce strain on your aorta.


The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat problems affecting the heart's valves, which control the flow of blood in and out of the heart and between the heart's chambers. Surgery may include:

  • Aortic aneurysm repair: If your weakened vessels have resulted in an aortic aneurysm (an enlargement in the walls of your aorta) traditional open surgery or a less invasive procedure called endovascular surgery may be recommended. The type of procedure recommended for you depends upon the location and appearance of the aneurysm and your health.
  • Heart valve replacement or repair: If Marfan syndrome affects the heart valves, traditional open surgery or minimally invasive surgery may be recommended to repair or replace the affected heart valves.


Marfan syndrome can affect many areas of the body, including the eyes and bones. But it’s greatest threat is to the heart. Heart complications due to Marfan syndrome can include:

Aortic aneurysm: The aorta is your largest artery and it brings oxygenated blood to all parts of the body. Marfan syndrome can cause weakness in the walls of the aorta. When that happens, an enlargement can occur, which is known as an aortic aneurysm. If the aneurysm becomes too large, it could rupture, which is extremely dangerous and can cause life-threatening bleeding.

Aortic dissection: Weakening of the walls of the aorta can also lead to tearing of the inner muscles of the aorta. When this happens, the aorta becomes further weakened, which can lead to a rupture.

Valve malformation: There are four valves in the heart, which regulate blood flow into or out of your heart each time it beats. Marfan syndrome can weaken the heart’s valves, causing blood to leak back into the heart, irregular heartbeat and shortness of breath.

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