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.
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