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International Health - Centers of Excellence: More Information About Marfan Syndrome

Marfan syndrome is a genetic disorder of the connective tissues that affects many organ systems, including the skeleton, lungs, eyes, skin, heart and blood vessels. This disorder affects men, women and children, and has been found among people of all races and ethnic backgrounds. Some people have only mild symptoms, while others are more severely affected.

About 70 percent of Marfan syndrome cases are inherited. Only one parent need have Marfan syndrome to pass the disorder on. Each child of a Marfan parent has a 50 percent chance of inheriting the syndrome. The other 30 percent of cases result from spontaneous mutation of a gene in the egg or sperm of an unaffected parent. A person is born with Marfan syndrome, even though the characteristics may not emerge and a diagnosis may not be made until later in life.

Common traits of Marfan syndrome include being exceptionally tall and lanky, loose-jointed, with long, spidery fingers and large, narrow feet. Other outward physical symptoms include a curved spine, a chest bone that curves in or out, a narrow elongated head, and nearsightedness. A person with Marfan syndrome often has a long, narrow face and the roof of the mouth may be arched causing the teeth to be crowded.

In Marfan patients, the aorta, or main blood vessel, is weakened and prone to enlargement. Without proper monitoring and medications to reduce the stress on the aorta, it could tear, resulting in sudden death, even in an otherwise healthy, unsuspecting young person. Sometimes there are heart valve problems which may necessitate heart valve replacement surgery. With early diagnosis, proper treatment and a modified lifestyle, however, most individuals with the disorder can live a normal life span that can extend in the 70's and beyond.

Marfan syndrome is treated medically and corrected surgically. Treatment requires careful monitoring and individuals are encouraged to stay in close contact with their cardiologist (heart specialist). Regular check-ups 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.

More than half all people with Marfan syndrome experience dislocation of one or both lenses of the eye. In most cases eyeglasses or contact lenses can correct vision problems due to Marfan syndrome, although surgery may be necessary in some cases. Early, regular eye exams with an ophthalmologist (eye doctor) are vital in catching and correcting any vision problems.

It is important for people with the Marfan syndrome not to smoke, as they are already at increased risk for lung damage. There are specific characteristics of Marfan syndrome that can affect the lungs, such as chest wall deformities which can constrict lung function. Restrictive lung disease occurs in more than 70 percent of people with the Marfan syndrome. The result is that the chest cannot expand fully. The primary symptom is shortness of breath during exertion.

Due to the risks involved and the difficulty in diagnosing Marfan syndrome, patients should seek a physician familiar with the disease for confirmation of the diagnosis and evaluation. An evaluation by a geneticist and an orthopedic surgeon are also important to many individuals.

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Copyright 2013 Washington University School of Medicine
Copyright 2013 Washington University School of Medicine