TIME Genetics

Basketball Star’s NBA Dreams Crushed by Marfan Syndrome Diagnosis

Baylor center Isaiah Austin shoots during the second half of an NCAA men's college basketball tournament regional semifinal, in Anaheim, Calif. on March 27, 2014.
Baylor center Isaiah Austin shoots during the second half of an NCAA men's college basketball tournament regional semifinal, in Anaheim, Calif. on March 27, 2014. Jae C. Hong—AP

Isaiah Austin was diagnosed with Marfan syndrome. But what's that?

Former Baylor center Isaiah Austin’s hopes of playing in the NBA were dashed this weekend when he was diagnosed with a disorder called Marfan syndrome. A standard EKG during a routine exam for the NBA draft revealed an abnormality, and further genetic testing showed he has Marfan syndrome.

But what is that exactly?

Marfan syndrome is a genetic disorder that affects the connective tissues in the body, and can interfere with the functionality of the heart, eyes, blood vessels and skeleton. According to the Mayo Clinic, it’s common for people with Marfan syndrome to be tall with disproportionately long arms, legs, fingers and toes. Austin is 7 ft. 1 in. tall.

The severity of the disease can differ from person to person, but if the heart and blood vessels are affected it can become a fatal disease. For example, aortic enlargement is a possible life threatening side effect and some players have died in the middle of a game due to the disease.

“They said I wouldn’t be able to play basketball anymore at a competitive level,” Austin told ESPN. “They found the gene in my blood sample. They told me that my arteries in my heart are enlarged and that if I overwork myself and push too hard that my heart could rupture. The draft is four days away, and I had a dream that my name was going to be called.”

According to the Marfan Foundation, around 1 in 5,000 people have Marfan syndrome across all races and ethnicities, though only about half of those with the disorder know they have it. The majority of people with the disease inherited it from a parent, since children of an individual with the disease have a 50% chance of getting the mutated gene that causes the disorder. About 25% of people will be the first to have the gene, meaning the disease can also be spurred by what’s called a spontaneous mutation.

It’s been rumored but not confirmed that Michael Phelps has Marfan syndrome, and in 1962, Cincinnati doctor Abraham Gordon was the first to propose that former president Abraham Lincoln suffered from the disease — just one of several theories to explain Abe’s lanky stature.

Treatment for Marfan syndrome usually includes taking medication to make sure blood pressure stays in check so that heart strain stays low. In some cases, heart, spine or eye surgery may be necessary.

“This is devastating news, but Isaiah has the best support system anyone could ask for, and he knows that all of Baylor Nation is behind him,” head coach Scott Drew said in a statement. “His health is the most important thing, and while it’s extremely sad that he won’t be able to play in the NBA, our hope is that he’ll return to Baylor to complete his degree and serve as a coach in our program.”

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