Marfan Syndrome

Marfan syndrome is a hereditary disorder that alters the chemical makeup of connective tissue, weakening the body’s foundational strength and elasticity.

The syndrome affects the bones, muscles, ligaments, blood vessels and, perhaps most seriously, the aorta – the artery that delivers blood from the heart to the rest of the body.

Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.

In bin Laden’s case, suspicion is based on common visible characteristics of Marfan syndrome, including long arms and long fingers, combined with a narrow, elongated face. The arm span of people with this condition, in fact, usually exceeds their body height.


Not everyone with Marfan syndrome exhibits every feature of the disorder. Sometimes, the features do not appear until adulthood.

The visible signs:

  • Tall, thin body.
  • Long legs, arms and fingers.
  • Sunken (or protruding) chest.
  • Crowded teeth (caused by a high-arched palate).
  • Flat feet.
  • Flexible joints.
  • Stretch marks on skin, unrelated to weight fluctuations.
  • Curved spine.
  • Elongated face.

The not-so-visible:

Cardiovascular complications present the biggest health threat to someone with Marfan syndrome. Misshapen or overly elastic heart valves increase risk of heart failure.

Weakened connective tissue also weakens the aorta, the vital arterial supplier of blood from the heart to the body.

This could lead to:

Aortic aneurysm: A bulging of the aorta’s wall caused by the pressure of blood escaping the heart. If the aneurysm continues to grow, it can burst and cause extensive internal bleeding or even death.

Aortic dissection: A tear in the aorta’s inner lining (intima) allows blood into the second of the artery’s three layers (media), which can lead to decreased blood flow (ischemia) to organs or an aortic rupture.

Aortic regurgitation: When the aortic valve doesn’t close fully, allowing blood to leak back into the heart.

Mitral valve prolapse : When the two flaps of the mitral valve, situated between the left atrium (upper-left chamber) and the left ventricle (lower-left chamber), don’t close tightly. The flaps, or leaflets, sometimes allow blood to flow back into the atrium. (A small amount of leaking might not require surgery.) Rapid or irregular heartbeats and shortness of breath often accompany mitral valve prolapse.


If diagnosed with Marfan syndrome, you should see an ophthalmologist to find out if the disorder has affected your eyesight.

Dislocated lenses: An estimated 60 percent of people with Marfan syndrome have a lens in front of the eye that has become dislodged because of weakened connective tissue that ordinarily holds it in place. This can happen in one or both eyes. The result is blurred vision, with difficulty focusing.

Detached retina: When the light-sensitive membrane at the back of the eye separates from an underlying layer of support tissue. Someone with a detached retina might notice floaters, flashing lights and a grayish curtain across the field of vision.

Also: glaucoma, cataracts (before age 60), severe myopia (nearsightedness), astigmatism (blurred vision), amblyopia (“lazy eye”) and strabismus (“crossed eyes”).


Marfan syndrome is inherited, though an estimated 25 percent of cases affect people with no known family history of the disease.

When it’s hereditary, it’s present when you’re born even if it’s sometimes not detected until ages 10 to 19 or later.


If your doctor thinks you might have Marfan syndrome, a heart-imaging test is the next logical step. An echocardiogram, which uses sound waves, will provide a real-time snapshot of your heart’s movement. Magnetic resonance imaging (MRI) and computerized tomography (CT) are other options.

If the exams are inconclusive, genetic testing might help clarify whether you, indeed, have mutations in the FBN1 gene that causes Marfan syndrome.

Some related disorders can cause the same symptoms as Marfan syndrome, among them Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Familial Thoracic Aortic Aneurysm and Dissection.

Your cardiologist will recommend any necessary lifestyle changes. A Marfan syndrome patient with an aortic aneurysm, for instance, will be advised to avoid high-intensity physical activity, any contact sport and strength training.

Although medication usually is not part of Marfan syndrome treatment, your doctor might prescribe a beta-blocker to relieve pressure within arteries in hopes of preventing an enlarged aorta.


An aortic aneurysm, typically the most serious heart problem facing someone with Marfan syndrome, requires surgery when medication cannot control a bulging, and weakened, aorta.

During the procedure, the affected area of the aorta is replaced with a graft made of synthetic material.

A leaky valve, either aortic or mitral, also might require surgery to prevent damage to the left ventricle or heart failure. Depending on the damage to the valve, the surgeon might repair the aortic or mitral valve. If the damage is extensive, the valve will be replaced.