Genetics 2 min read

Basketball Star’s Diagnosis Puts Spotlight on Inherited Genetic Disorder Known as Marfan Syndrome

By John Lugo

Isaiah Austin thought he had done everything right. The 7-foot athlete trained his way into becoming a key basketball player for Baylor University and had aspirations to play professionally in the NBA.

Then he found out the reason why his dream would never come true: Marfan syndrome.

As defined by the Mayo Clinic, Marfan syndrome is “an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels, and skeleton.”

Austin learned about his genetic disorder during the mandatory health screening for everyone joining the NBA Draft. The league’s medical staff agreed to further genetic testing after an abnormality was discovered during Austin’s echocardiogram, an ultrasound for the heart.

But possibly the first sign that Austin had Marfan syndrome was the retinal injury he suffered in middle school. A baseball hit to his right eye loosened Austin’s retina, which detached two years later. Because of its effect on the body’s connective tissues, Marfan syndrome is  known to increase the likelihood of retinal detachment. But despite the partial blindness (now full blindness) in his right eye, Austin still went on to play for Baylor and became an important part of the team, which advanced to the Sweet 16 in this year’s NCAA Championships.

The biggest risk of Marfan syndrome, a disorder that affects 1 in 5,000, is the potential damage to the aorta. With Marfan, the aorta can weaken and slowly come apart. Aortic aneurysms are another possibility. Both results can be life-threatening.

It’s fortunate for Austin that the NBA discovered his disorder and may have saved his life, but what about everyone else? According to the Marfan Foundation, nearly half the people who have Marfan syndrome don’t know it.

Though not all people with Marfan syndrome have the same features, there are some signs to look for, including a tall and thin build; long arms, legs, fingers, and toes; a curving spine similar to scoliosis; a chest that sinks in or sticks out; flat feet; crowded teeth; and stretch marks not related to weight loss or gain. Other signs of Marfan syndrome include problems with the aorta, sudden lung collapse, and vision issues such as early glaucoma and cataracts.

If you think you or your child might have Marfan syndrome, the Marfan Foundation recommends that you gather your family history and contact a doctor who has experience with genetic disorders.