Baylor University basketball star Isaiah Austin was 20 years old when the NBA told him last month that he had Marfan syndrome and was ineligible to play professional basketball. Why was Austin not diagnosed with this potentially fatal connective-tissue disorder earlier in life? The answer may lie in a 2010 study by Sponseller et al. in JBJS. The authors point out that early diagnosis of Marfan syndrome is complicated by the fact that many of its recognizable skeletal features—including scoliosis and flat feet—appear with some frequency in the general population.
By studying people with confirmed Marfan syndrome and those without, the authors discovered that the most diagnostically relevant physical characteristics of the syndrome are craniofacial features such as narrow cranial shape and positive thumb and wrist signs. The combined presence of those characteristics yielded an area-under-the-curve diagnostic accuracy of 0.997. Doctors often recommend that people with suspected Marfan syndrome receive confirmatory genetic tests, which are readily available but expensive.
Even though it’s difficult to recognize Marfan syndrome on the basis of physical observation alone, Sponseller et al. suggest that orthopaedists “at least briefly visualize the entire patient” and consider a referral for genetic testing and/or echocardiogram when the aforementioned features are present.
For his part, Mr. Austin took the news in stride. He said he plans to return to Baylor to finish his degree and perhaps become a Marfan syndrome advocate-educator. His inspiring Instagram message: “Please do not take the privilege of playing sports or anything for granted.”