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Named after Antoine Marfan, the French doctor who discovered Marfan syndrome in 1896           



Causes, incidence, and risk factors:

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

A problem with this gene leads to changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.





In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect but the real cause is likely to be inflammation or autoimmune.


What Are the Signs and Symptoms of Marfan Syndrome?

Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.

Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.


 Stretch marks (striae atrophicae) in the lower back.

Complications of Marfan Syndrome

Heart and Blood Vessel Complications

The most serious complications of Marfan syndrome involve the heart and blood vessels.

Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm.

If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death.

Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 9𢴏.

Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP).

MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms.

If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat.

Eye Complications

Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur.

return to page one of Marfan



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