Marfan syndrome

Marfan syndrome is a connective tissue disorder. Because connective tissue is found throughout the body, the disorder can affect many parts of the body, including the skeletal system, cardiovascular system, eyes and skin. The most serious effects of Marfan syndrome are cardiovascular. The disease weakens the aorta (the large artery that carries blood from your heart to the rest of your body). This can cause the aorta to enlarge, tear or rupture. Heart valve problems, particularly of the mitral valve can also occur.

Risk factors

Marfan syndrome is an inherited disorder, so the greatest risk factor is having a parent with the disorder. However, up to 30 percent of cases have no family history.

Symptoms

The symptoms of Marfan syndrome can vary greatly from person to person. They may include:

• a tall frame and long, thin arms and legs
• scoliosis
• vision problems 
• flat feet
• a breastbone that curves inward or outward
• long fingers
• loose joints, joint dislocations
• stretch marks on the skin

Cardiovascular problems are the most serious effects of Marfan syndrome. The valve between the left chambers of the heart may be defective and may leak. This can lead to abnormal heart rhythms and congestive heart failure. The aorta may enlarge, weaken and tear or rupture. A tear or rupture of the aorta can lead to serious heart problems or death.

For more information, visit www.marfan.org