Scientists at the Johns Hopkins University and the Shriners Hospital in Portland, Ore., have identified the gene responsible for Marfan syndrome, a discovery that has spawned a test capable of diagnosing the disorder before deadly symptoms appear.
A cure might still be many years off, but the discovery could save lives, since it offers patients the chance of diagnosis early in life and treatment -- such as drugs or surgery -- to prevent or delay fatal complications.
Within a year, scientists predict, a prospective parent whose family has been plagued by Marfan will be able to get a prenatal diagnosis.
"This is a very personal issue, not something we would inflict an opinion on," Dr. Harry C. Dietz of Hopkins, the principal author of an article in today's issue of Nature, said yesterday at a news briefing. "But we can't deprive families of this information."
Marfan, which strikes one in 10,000 people, is a disorder of the connective tissue that holds together skin, muscles and organs. Its symptoms include tall stature; elongated arms, fingers and toes; nearsightedness; dislocation of eye lenses; overly flexible joints; and a stretched, fragile aorta, the heart's main blood vessel.
At least two star athletes, Olympic volleyball player Flo Hyman and University of Maryland basketball player Chris Patton, have died during competition when their Marfan-weakened coronary arteries burst.
Those with the disease may have some or all of the symptoms, which can range from severe to mild. Marfan's variability often makes it difficult to diagnose, a problem that underscores the excitement of some sufferers, parents and scientists over yesterday's announcement.
"It would have made a big difference for my family and myself to have a diagnosis earlier in life," said Dawn Trump, a 33-year-old Baltimorean who was diagnosed at age 12 on the basis of her rapid growth and other symptoms.
"We could have put a name on things -- why things had been so much different for me," she said. "It's very hard to cope with something when you don't know why" it is happening.
Ms. Trump, who is 5 feet 10 inches tall, attained that height at age 14. In her teens, she took hormones to slow her rapid growth -- at one time an inch a month -- and underwent surgery to stabilize her curving spine. In her 20s, she began taking beta blockers -- a heart medication -- to stave off the deterioration of her aorta.
