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The Deadly Mystery of Marfan Syndrome

Genetic disorder often affects extremely tall people

FRIDAY, Dec. 27, 2002 (HealthDayNews) -- When U.S. Olympic volleyball star Flo Hyman died suddenly during a routine volleyball match in Japan in 1986, the doctors ruled the cause of death as a heart attack.

An autopsy later revealed, however, that the 6-foot-5 Hyman had died of a ruptured aorta caused by Marfan syndrome, a genetic disorder that often -- but not always -- affects extremely tall people with abnormally long and slender fingers and toes.

Hyman, like many of the other 200,000-plus Americans who suffer from this and other related conditions, didn't know she had it.

Marfan syndrome, a disorder of the body's connective tissue that affects the skeleton, eyes, heart and blood vessels, often has no symptoms and isn't discovered until the victim dies suddenly from a ruptured aorta. It is usually inherited and it affects men, women and children of any race or ethnic group and has, until recently, carried with it a life expectancy in the 20s.

Dr. Douglas Moodie, a world-renowned Marfan expert and chief of pediatrics at the Ochsner Clinic in New Orleans, has been working to change the death rate through education and treatment.

Education means a dissemination of knowledge to the medical community to detect the condition, and treatment means medication, surgical procedures and follow-up care that can help a Marfan sufferer live a normal life span.

"The problem is, in practice, a doctor may see one of these cases in their whole career," Moodie says. "We need to get the information out, and not just when there's a flurry of activity after a famous athlete dies."

According to Moodie, one of the strongest predictors of Marfan syndrome is the eyes, because its victims often suffer from lens dislocation. To determine this, the patient needs a slit-lamp exam, which should be performed by an ophthalmologist before he or she comes to the clinic.

"About 90 percent of the time, this is a very strong marker. The lens tends to dislocate frontwards and upwards," Moodie says.

Advances in electronic imaging -- including MRI and Rapid CT -- have also helped detect abnormalities in the aorta, another great indicator of the condition. Also recommended are an echocardiogram, a sound wave picture of the heart by a cardiologist, a skeletal examination by an orthopedist and a look at the patient's complete family history.

Once diagnosed, a patient can undergo surgery to replace the diseased portion of the aorta, usually with a Dacron fabric tube containing a mechanical valve. According to Moodie, refinements in surgery have brought the success rate up to 97 percent to 99 percent. Then patients need to be monitored very closely and are usually put on blood thinners and/or beta blockers.

A large number of those affected by Marfan, which was named after the doctor who discovered it in 1896, are athletes or basketball players.

Sometimes it affects a whole family, like the Mahonys of Mandeville, La., a suburb of New Orleans.

Kevin Mahony was diagnosed with Marfan in the 1980s and had surgery to replace his aortic valve and ascending aorta in 1986. His sons, aged 8 and 11, were diagnosed at under 2 years old. They have had eye surgery and are on beta blocker therapy, and his 1-year-old daughter was also recently diagnosed. The family is under Moodie's care.

Mahony, who owns a land title company, is hopeful that -- with proper care and monitoring -- he and his children can live a normal life. Among the restrictions for the Mahonys and other Marfan sufferers are, no contact sports and no isometric exercises.

"Marfan is a very manageable disease now," he says. "We almost have the same life expectancy as a normal adult, as long as you live a modified lifestyle and don't go out and do the things they tell you not to do."

While there is no cure for Marfan, Moodie maintains that careful medical management can greatly improve the prognosis and the quality of life of his patients.

"We've changed the terrible natural history of this disease, and people are now doing extremely well," he said. "Before these advances, the mean age of death was 28. Now people are living into their 60s and 70s."

What To Do

The Ochsner Clinic and the National Marfan Foundation have more information.

SOURCES: Douglas Moodie, M.D., Marfan syndrome expert, and chief, pediatrics, Ochsner Clinic, New Orleans; Kevin Mahony, Mandeville, La.
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