Marfan Syndrome and How Sports Science is Saving Lives
In 1984, Flo Hyman won a silver medal at the Olympics. Hyman was a member of the United States Volleyball team. Her side lost in the final to China, who had threepeated by adding Olympic gold to a World Cup and World Championship victory. Despite that loss, Hyman was the biggest name in volleyball and in her prime at 29 years of age.
In 1986, Flo Hyman was dead.
Hyman turned her Olympic career into a professional career and moved to Japan after winning Silver. She joined the Daiei women’s squad in the Japan Volleyball League. She was so popular in Japan that she became a model and actor there also. Her plan was to return to her native America in the summer of 1986 but instead she was removed on a stretcher, pulseless and pronounced dead, from a game against Hitachi in Matsue City.
An autopsy later revealed that Hyman died from an aortic dissection, attributed to undiagnosed Marfan syndrome. Hyman had been experiencing weak and faint spells previously. She was a 6’5” hitter who, despite going to the Olympics, had never been screened for Marfan syndrome.
Testing has become more widespread since. The NBA combine now includes screening for health conditions that would otherwise go unnoticed.
Marfan syndrome is a genetic disorder that affects the connective tissue. It impacts the FBN1 gene that results in the formation of abnormal connective tissue. Most cases are inherited although new mutation occurs in 25% of cases. Those with the condition tend to be tall and thin, with long arms, legs, fingers and toes. They have overly-flexible joints and scoliosis. The most serious complications involved the heart and aorta. Specifically, Marfan syndrome increases the risk of mitral valve prolapse and aortic aneurysm. While the heart is the gravest concern, connective tissue anywhere in the body can be impacted. This includes the lungs, eyes, bones and the covering of the spinal cord.
Acute aortic dissection or rupture in Marfan syndrome patients is a significant cause of sudden death in athletes. That is because intense physical exertion stresses areas of risk for patients with Marfan syndrome. Increased blood pressure and aortic stress put the patient at greater risk for aortic catastrophe or may accelerate the formation of an aneurysm.
The American Heart Association has made recommendations about participation in sport and physical activity for individuals with Marfan Syndrome:
Intermediate risk: basketball (both full- and half-court), racquetball, squash, running (sprinting and jogging), skiing (downhill and cross-country), soccer, singles tennis, touch (flag) football, baseball, softball, biking, lap swimming, motorcycling, and horseback riding.
High risk: bodybuilding, weightlifting (non-free and free weights), ice hockey, rock climbing, windsurfing, surfing, and scuba diving.
Marfan syndrome is diagnosed by using clinical criteria, imaging, family history and genetic testing as outlined in the revised Ghent criteria. Characteristics associated with Marfan syndrome include tall, thin stature, long arms, elongated fingers, and hypermobile joints.
Although it may alter the careers of promising athletes, screening and early identification of Marfan syndrome can save athletes lives, thus coaches and sports medicine professionals have a responsibility to move forward with caution. That is especially the case in sports where the prototype players are tall and thin (basketball, volleyball etc).
The NBA has rightfully been lauded for rigorously screening athletes and identifying players who show signs of Marfan syndrome.
In 2014, Isaiah Austin’s NBA career was brought to an abrupt halt following screening tests at the NBA combine. Austin went to the combine hoping to raise his stock as a first-round draft pick so he could then earn millions of dollars in his career. Instead, he had his NBA career ended. A routine echocardiogram (a test that looks at the structure and function of the heart) found an abnormality. Genetic testing confirmed the diagnosis of Marfan sydrome.
Austin spent three years out of basketball altogether. He has since carved out a professional career in smaller nations across the world. He’ll never play in the NBA but he’ll live and he’ll continue to play basketball. That’s an option Hyman didn’t get.
Had sports science advanced far enough back in the 80s, then maybe Hyman would have gotten that opportunity. Sports science and an appreciation for the importance of the health of athletes has brought us far forward over the 30 years between Hyman and Austin. So long as we continue going in this direction, countless more athletes should be safer and live healthier, better lives over the next 30 years.