The Marfan Syndrome

finger length in marfan syndrome

The Marfan Syndrome

The Marfan syndrome has been publicized in sport magazines because of the sudden, untimely deaths of Olympic volleyball player Flo Hyman and collegiate basketball player Chris Patton who had this condition. The Marfan syndrome is an inherited, degenerative disorder of the connective tissue, which gives shape and structure to tissues in the body and holds them in place. It affects several organ systems including the ocular system (eyes), the cardiovascular system (heart and blood vessels), and the skeletal system (bones and joints). The condition is considered a syndrome because the physical symptoms occur together frequently enough for a pattern to be recognized. More than 50,000 people in the United States have the Marfan syndrome.

Signs and symptoms

 

The number and severity of symptoms vary from person to person. The lenses that enable the eyes to focus on objects can be intact or dislocated (off center). The heart can produce no symptoms until middle age, or its aorta (large artery carrying blood out of the heart) can develop a life-threatening aneurysm (i.e., the thin wall of the aorta balloons out under pressure) during adolescence.

The tubular long bones (e.g., arms, legs, and fingers) can grow until the person is slightly taller than average or until the person is much taller than average. The breastbone can appear normal or can point outward (pigeon chest) or inward (funnel chest). In an extreme case, the signs and symptoms are obvious; the person is unusually tall and thin, wears thick glasses, and tires out easily with moderate physical activity. In a typical case, the affected person is taller than average for his or her age, is near-sighted, has an arm span exceeding his or her height (Fig. 1), is loose jointed (especially in the knees, wrists, and fingers) (Fig. 2), is excessively flexible or limber, has flat or "rocker bottom" feet, and has kyphoscoliosis (an abnormal forward and sideways curve of the back bone) (Fig. 3).

long arms in marfan syndrome

Because of the physical characteristics that can accompany the Marfan syndrome, the term has been used loosely - and sometimes incorrectly or without evidence - to describe any person who is tall and thin and has long arms and legs. An unsuccessful proposal was made in the 1980s for athletes in the National Basketball Association to undergo testing for the Marfan syndrome. Without conclusive evidence, historians and medical professionals have debated whether Abraham Lincoln had the Marfan syndrome.

Diagnosis

Diagnosing the Marfan syndrome is difficult because the number and severity of symptoms affecting each person varies. The doctor may first recognize that you demonstrate some symptoms of the disorder when treating you for a dislocated hip, kneecap, or jaw; groin pain due to a hernia; or spontaneous leakage of air from the lungs into the chest cavity.In addition to the physical examination, the doctor records your family's medical history. He or she even looks at photographs to find out whether your family members have any physical characteristics that could be related to the Marfan syndrome.

Treatment

The Marfan syndrome cannot be cured. However, a treatment plan customized to your needs may help improve the quality and length of your life. Treatment includes annual echocardiograms (sound wave picture of the heart) and electrocardiograms (recording of the heart's electrical rhythms), periodic eye examinations by an ophthalmologist, evaluations of the skeletal system (especially for growing children and adolescents), medications, and lifestyle adaptations.

Participation in sports

Talk with your doctor about the limits for safe participation in sports and pick your activities carefully. Avoid strenuous activities such as weight training, high-impact aerobics, and scuba diving that can aggravate an existing aortic aneurysm (Fig. 4). Avoid contact sports such as boxing, hockey, football, and rugby that put you at risk for fully dislocating an already loosened lens and for damaging the aorta. Avoid sports such as skiing, mountain climbing, gymnastics, and wrestling that put your loose joints at risk for injury.Sports better suited to your condition involve no contact and a low level of intensity. You may be able to walk briskly, play golf, bowl, and leisurely ride your bicycle. Your doctor can tell you about the benefits, risks, and expected outcome of participating in different types of sports from a high-intensity, contact sport like rugby to a low-intensity, non-contact sport like golf. Based on your condition and abilities, the doctor can help you find a sporting activity that is safe and fulfilling.

John M. Henderson, D.O., FAAFP
Bruce Getz, ATC
and Kelli Bowermeister
Columbus, Georgia

For more information, contact the

 

National Marfan Foundation,

 

382 Main Street,

 

Port Washington, NY 11050,

 

(516) 883-8712, (800) 8-MARFAN,

 

http://www.marfan.org.