The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.
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The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

The Marfan syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.


There is no cure for the Marfan syndrome. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems are affected.

Skeletal- Annual evaluations are important to detect any changes in the spine or breastbone (sternum). This is particularly important in times of rapid growth, such as adolescence. A serious deformity can not only be disfiguring but can also prevent the heart and lungs from functioning properly. In some cases, an orthopedic brace or surgery may be recommended.

Eyes- Early, regular eye examinations are key to catching and correcting any vision problems associated with the Marfan syndrome. In most cases, eyeglasses or contact lenses can correct the problem, although surgery may be necessary in some cases.

Heart and blood vessels- Regular checkups and echocardiograms help the doctor evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications. Those with heart problems are encouraged to wear a medical alert bracelet and to go to the emergency room if they experience chest, back or abdominal pain. Some heart valve problems can be managed with drugs such as beta-blockers, which help decrease stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be necessary. Surgery should be performed before the aorta reaches a size that puts it at high risk for tear or rupture. Following heart surgery, extreme care must be followed to prevent endocarditis (inflammation of the lining of the heart cavity and valves). Dentists should be alerted to this risk; they should provide protective medicines before they perform certain dental work.

Nervous system- If dural ectasia (swelling of the covering of the spinal cord) develops, medication may help minimize any associated pain.

Lungs- It is especially important that people with the Marfan syndrome not smoke, as they are already at increased risk for lung damage. Any problems with breathing during sleep should be assessed by a doctor. Sudden onset of chest pain made worse by taking a deep breath, shortness of breath and/or dry cough may be signs of a spontaneous pneumothorax. Although not usually life-threatening, a spontaneous pneumothorax requires immediate medical attention.

Physical Activity and Exercise– People with the Marfan syndrome are often tall and agile and may be inappropriately encouraged to compete in sports without knowing the dangers involved. Competitive and collision/contact sports are potentially dangerous in the Marfan syndrome because of underlying weakness of the blood vessels, problems with the heart valves, eyes and skeleton. Physical activities should be individualized for each person.

More information found here:
http://www.marfan.org/nmf/inde...