Introduction

Marfan Syndrome is a hereditary disorder of the connective tissue affecting many organ systems, including the skeleton, lungs, eyes, heart, and blood vessels.

The syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds.

Causes

Marfan Syndrome is caused by a defect in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue. The defective gene can be inherited.

External Signs

Marfan Syndrome affects people in many different ways. While some people have only mild symptoms, others are more severely affected. In most cases, the disorder becomes more serious as the person ages.

People with Marfan syndrome are typically very tall, slender, and loose jointed. The long bones of the skeleton, arms, legs, fingers, and toes may be noticeably long in relation to the rest of the body.

Other characteristics include a long, narrow face, and the roof of the mouth may be arched causing teeth to be crowded. Other skeletal abnormalities may include a protruding or indented breastbone, curvature of the spine, and/or flat feet.

Internal Signs

Marfan syndrome may also affect eyes. More than half of all people with the condition experience dislocation of one or both lenses. Great care must be taken in the health of the eyes as retinal detachment is a possible complication of the syndrome.

Heart and blood vessel abnormalities are also common. The valve between the left chambers of the heart may be large and soft, resulting in an abnormal valve motion when the heart beats. In some cases, the valve may leak creating a heart murmur. Small leaks may not cause any symptoms, but larger ones may cause shortness of breath, fatigue, and a very fast or irregular heart rate. Other symptoms include stretch marks. People with Marfan syndrome are also at increased risk for developing an abdominal hernia where a bulge containing part of the intestines develops.

Treatment

Although there is no cure for Marfan syndrome, there are many options for managing the symptoms the condition.

Because Marfan syndrome is rare, it is important to find a physician who is knowledgeable about the condition. During the initial physical examination, a detailed medical and family history will be taken along with height measurement, eye exam and an electrocardiogram.

An annual skeletal evaluation to detect any changes in the spine or sternum is typically conducted. This evaluation is particularly important during the high-growth period of adolescence. A serious abnormality is not only disfiguring but it can also prevent the heart and lungs from functioning properly. In some cases, an orthopedic brace or surgery may be recommended to limit the damage.

Regular eye examinations are vital in uncovering and correcting any vision problems. In most cases glasses or contact lenses can correct the problem. However, surgery may be necessary in some cases.

Regular checkups and echocardiograms help in evaluating 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 should 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-blocker, that may help decrease stress on the aorta. However, surgery to replace a valve or repair the aorta may be necessary.