When basketball star Isaiah Austin stood in front of the crowd at June’s NBA draft, the moment had special meaning for people with genetic conditions.
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Sadly, the 20-year-old Austin was a ceremonial draft pick. The college standout from Baylor saw his life change during a pre-draft physical. That physical led to a diagnosis of Marfan syndrome.
The big concern: Austin had an enlarged aortic artery, a common problem in Marfan syndrome. The strain of pro basketball would be too much for his heart to handle. As a result, his pro career never had a chance to take off.
Austin handled the situation gracefully. And his story highlights lessons for patients and doctors alike.
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“If more people understand just how important genetics and family history are to improving your health, Austin’s story will make a real difference.”
Charis Eng, MD, PhD
Founding Chairwoman of the Genomic Medicine Institute
Marfan syndrome affects around 1 in 5,000 people. That may sound rare, but among genetic conditions, it’s actually a high rate. So is this: Three out of four cases of Marfan are inherited.
Family history offers a major clue for diagnosing Marfan. But genetics is a young field. Too many doctors and patients do not go through the process of taking a good family history.
That’s changing. Tools such as Cleveland Clinic’s MyFamily and the Surgeon General’s My Family Health Portrait make it easier for patients to gather information. Then, they make it easier for doctors to make a diagnosis and care plan.
For example, Marfan comes from a mutation in the FBN1 gene. If you have Marfan in your family history, a simple test for this mutation — along with genetic counseling — can help determine if you have the condition, as well.
Outward signs, inward symptoms
As with any health condition, early detection changes everything. If Austin had known he had Marfan as a child, doctors would have monitored him for signs of aortic enlargement, for example.
Austin also has classic physical features of Marfan, which affects the body’s connective tissues. Many people with Marfan grow very tall. They have long limbs and large hands. Those features may make for a great basketball player, but internal damage becomes a major concern.
Damage to connective tissue leads not only to heart issues, but also to lung diseases and other concerns. It can also lead to eye conditions, such as the detached retina Austin previously suffered.
With the right diagnosis early in life, doctors can personalize clinical care and monitor closely for these signs. For example, a cardiologist will use frequent echocardiogram or ultrasound to monitor the aorta for abnormal growth.
There’s new hope for patients with Marfan coming from research, too. Ongoing studies are examining how certain medications, including an angiotension receptor II blocker, might prevent damage in the aorta, for example. Doctors also may discuss potential elective surgery for aortic root dilatation with patients. It is often an effective life-saving option.
I have no doubt a high-profile case such as Austin’s helps draw attention to genetic conditions. But action matters even more than awareness. If more people understand just how important genetics and family history are to improving your health, Austin’s story will make a real difference.