By Miriam Falco, CNN
updated 6:25 PM EDT, Mon June 23, 2014
STORY HIGHLIGHTS
- NBA hopeful Isaiah Austin diagnosed with Marfan syndrome
- Marfan syndrome is a rate genetic disease that leaves connective tissue weak
- Defective gene can cause excessive bone growth, eye problems
(CNN) -- Four days before Baylor University basketball star Isaiah Austin hoped to be drafted into the NBA, his dreams of playing in the pros were extinguished by a rare genetic disease called Marfan syndrome.
"I had a dream that my name was going to be called," Austin told ESPN. But after a standard physical, test results revealed he had Marfan syndrome. "They said I wouldn't be able to play basketball no more, at a competitive level. ... They told me my arteries and my heart are enlarged, and that if I overwork myself or push myself, my heart could rupture."
Marfan syndrome is caused by a genetic mutation that leaves connective tissue in the body weak, according to the National Institutes of Health. The defective gene can also cause excessive growth of longer bones in the body, although it's not clear why this happens.
People with Marfan syndrome are usually very tall and thin. They often have longer than usual arms, legs, fingers and toes, according to the NIH. Austin, at 7-foot-1, matches this description.
The center from Arlington, Texas, revealed during his sophomore season at Baylor that he is blind in his right eye as a result of a detached retina he suffered as a teenager. He was expected to be the first partially blind player in the NBA. Eye problems are a common effect of Marfan syndrome.
Curved spines, chests that stick out or sink in, flexible joints, and stretch marks not related to weight gain or loss are also visible signs of Marfan syndrome.
Less visible, and often unnoticed until it's too late: weak parts of the aorta -- the large artery that carries blood from the heart to the rest of the body -- which can tear or rupture. Leaky heart valves that can cause a heart murmur are also among the symptoms.
As devastating as the news may be for Austin, getting this diagnosis now may be a lifesaver.
"People with Marfan syndrome can live a long life if they are diagnosed and treated with medication and, when necessary, surgery," Carolyn Levering, president and CEO of The Marfan Foundation, said in a statement. "Competitive and contact sports need to be halted to protect the fragile aorta. Otherwise, it is prone to tear and possibly rupture, which would cause sudden death."
"While it is disappointing for Isaiah that he cannot pursue a career in the NBA, receiving the diagnosis before a fatal episode is truly a gift."
Nearly 30 years ago, American volleyball player Flo Hyman was playing in a Japanese league. After being taken out of a game for a routine substitution, Sports Illustrated reported in 1986, she sat on the bench, slid to the floor and died. Her diagnosis of Marfan syndrome was made only after her family requested an autopsy.
Hyman never knew she was playing with a dime-sized weak spot on her aorta that burst during the game.
The Marfan Foundation estimates about 200,000 people in the United States have Marfan syndrome or a related disorder; about half don't know it. Most people who have Marfan syndrome inherit it from their parents, according to the NIH, though a quarter of the cases are not inherited.
There is no cure for Marfan syndrome, but getting regular checkups, having surgery, taking medications and wearing a medical alert bracelet can help someone living with the disease have the best possible outcome.
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