Basketball Player’s Marfan Diagnosis Puts Spotlight on Rare Condition

 Elongated limbs and digits are some of the physical hallmarks of Marfan syndrome. Early diagnosis and treatment can prevent life-threatening heart conditions and extend lifespan of individuals with the disorder, according to the Marfan Foundation. Image: Rick Guidotti/The Marfan Foundation


Elongated limbs and digits are some of the physical hallmarks of Marfan syndrome. Early diagnosis and treatment can prevent life-threatening heart conditions and extend lifespan of individuals with the disorder, according to the Marfan Foundation. Image: Rick Guidotti/The Marfan Foundation

Just 4 days before he was expected to be drafted by a professional basketball team, Isaiah Austin received a career-ending diagnosis of Marfan syndrome, according to reports from ESPN. Individuals with this genetic condition, which can cause enlargement and weakening of the aorta, may experience deadly aortic rupture under physical exertion.

The news has drawn attention to a rare condition that affects about 1 in 5000 people worldwide. According to the Marfan Foundation, about half of these individuals go undiagnosed, which can leave them at risk and deny them life-extending treatment.

Marfan syndrome is caused by a gene mutation that affects the extracellular matrix, which provides structure between cells. Its symptoms vary and its effects can range from mild to severe. People with the syndrome are often tall and thin, have long limbs, and are unusually flexible. They are also prone to heart and lung problems and eye disorders, such as retinal detachment. Genetic and other tests can help detect the disorder.

“People with Marfan syndrome can live a long life if they are diagnosed and treated with medication and, when necessary, surgery,” said Carolyn Levering, president and CEO of the Marfan Foundation. “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.”

In one tragic case, 1984 US Olympic volleyball team captain Flo Hyman died of a tear in the aorta while playing in a 1986 tournament. According to news reports, an autopsy determined that she had Marfan syndrome but her condition had not been diagnosed. In a statement, the Marfan Foundation emphasized the importance of screening for the disorder.

Improved treatment, which may include heart surgery, medication with b-blockers, and other strategies have greatly extended the life span of patients with Marfan syndrome. Genetic studies helped reveal the underlying cause of the disorder, pointing the way to possible therapies.

Such work led scientists to discover that the blood pressure medication losartan helped reverse some symptoms in mice with a Marfanlike condition. Use of losartan also helped reduce aortic enlargement in a group of 18 human patients. Results from a randomized clinical trial started several years ago to study use of losartan in patients with Marfan syndrome are expected to be published in the fall. If the results are favorable, losartan may give patients an additional treatment option for managing their symptoms.

 



Categories: Cardiovascular/Cardiothoracic Surgery, Genetic Disorders, Genetics, Sports Medicine

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