Marfan's syndrome

Antoine Marfan (1858-1942) was a French physician who became interested in pediatrics when he deputized for a colleague at Paris's Hospital for Sick Children in the late 1800s. Marfan believed medicine should be based on methodicaland vigorous observation of the patient. It was in the course of his clinical studies in 1896 that he described the main features of a syndrome that later was given his name. Marfan's patient, a five-year-old girl, was thin, and had long limbs and abnormally long fingers and toes. Marfan compared the girl's long digits to the legs of a spider, which gave the condition its medical name, arachnodacryly, from the Greek word for "spider," arachne .

Marfan's findings had been suggested 20 years earlier by an eye doctor in Cincinnati, Ohio, who described a tremor in the irises of a brother and sister with long limbs and exceptionally flexible joints--all subsequently shown to be characteristic symptoms of Marfan's syndrome. Later observers noted that Marfan's patients also are often tall and thin, with a long and narrow face, and may have a curved spine and a protruding or sunken breastbone. Most serious, it was found that the heart valves in Marfan's patients tend to leak, and the aorta--the body's largest artery--tends to enlarge and develop aneurysms,weak spots that may suddenly and fatally burst.

The cause of Marfan's is a (usually inherited) disorder of the body's connective tissue. In 1991, researchers discovered that a defective gene on chromosome 15 causes the syndrome. The severity of the disease will vary depending onthe type of mutation, which affects the production of a protein call fibrillin. As a result, individuals with the syndrome apparently have insufficient amounts tiny fibers, which provide strength and elasticity to normal connective tissue. Research is under way to identify the various mutations that causethe disorder. Marfan's patients must be regularly monitored via echocardiography to check the size of the aorta and may need to be medicated with beta blockers, which reduce stress on the aorta by lowering the heart rate and contraction strength. The results of undiagnosed or unmonitored Marfan's can be tragic, as in the case of Flo Hyman, a 6-foot-5-inch Olympic volleyball star whodied of an aorta rupture while on tour; her Marfan's was discovered only byautopsy. Another famous figure who may have had Marfan's was Abraham Lincoln(1809-1865), whose physical appearance suggests that conclusion to many observers. It is estimated that one in 10,000 people have Marfan's syndrome.

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