07/25/2014 05:17 pm ET Updated Sep 24, 2014

What Parents and Young Athletes Need to Know About Marfan Syndrome

Erik Isakson via Getty Images

Isiah Austin was a star high school and college basketball player. His dream of going pro was about to happen when a mandatory pre-draft physical exam revealed Austin had Marfan syndrome and his career came to an end. This is not the first time we have heard this story.

Flo Hyman was a silver medalist on the 1984 US Women's Volleyball team. Flo died from an aortic rupture while playing professional volleyball in 1986 secondary to Marfan syndrome. Florida State basketball player Ronalda Pierce died in 2004 from an aneurysm that may have resulted from Marfan syndrome.

Working in sports medicine for many years, I have seen cases of Marfan syndrome in my own practice. My colleagues have diagnosed the disorder in elite athletes, the burden on their shoulders to end budding careers. These are athletes who never made the press.

The diagnosis of Marfan syndrome requires attention to the detail of the signs of pathology. The typical Marfan syndrome patient has an arm span that is longer than his or her height. These patients also have very long fingers (arachnodactyly) and often excessive flexibility. There are tests to ascertain this excessive joint mobility that are relatively unique to a Marfan syndrome patient. Other common features include flat feet and head shape. While it is a subtle head shape change, this is yet another attention to detail that is required for an accurate diagnosis.

Marfan syndrome patients often have retinal pathologies. The most important clinical concern, however, is the dilation (expansion) of the aorta, which is the major artery that comes from the heart. This expansion is consistent with Marfan syndrome's connective tissue pathology in which the aorta wall is weak and stretches until it ruptures in some cases. The increased blood pressure from exertion, such as sports, can stress the weak wall and cause the rupture.

So, how can parents help avoid missing a potentially life-saving diagnosis of Marfan syndrome in their athlete children? Be mindful of some key warning signs:

  • Arm Span - If you continually hear coaches say your child has long arms, or their arms are a certain amount longer than their height, then you should have him/her checked by a physician. While coaches see very long arms as a greater ability to block basketballs or volleyballs, the possibility of a Marfan syndrome screening should at least be considered.
  • Big Hands/Long Fingers -- Coaches may have commented that your son or daughter has big hands or long fingers, which leads to greater ball control, but could be another sign of Marfan syndrome.
  • Excessive Flexibility -- You may have noticed your child has never really had to work on his/her flexibility, but has always appeared flexible. Excessive flexibility is one of the indicators of Marfan syndrome.
  • Visual/Retinal Problems -- If your son or daughter also has visual or retinal problems, along with the other symptoms above, a Marfan syndrome screening is worth considering.

Marfan syndrome is seen in approximately one in 5,000 people. If you plan to have your child tested for this disorder, doctors will perform a heart and aortic evaluation using an echocardiogram to determine if the aorta or the heart is enlarged. A genetic test will be performed as well.

Many doctors saw Isiah Austin, Flo Hyman, Reynolda Pierce and other athletes you won't recognize, but Marfan syndrome is a diagnosis easy to miss unless one deliberately considers it and pays a great attention to detail. If your young son or daughter is playing basketball or volleyball and you are hearing the comments above, please take him or her to a physician for the appropriate tests -- at the very least to rule the condition out and have some peace of mind. Simply draw the doctor's attention to the problem by saying "We would like to know if our son/daughter has Marfan syndrome."

While many athletes with these symptoms do not have Marfan syndrome, as a parent or coach, you can't take the risk. The consequences are too great, and it is far easier to simply have a proper evaluation.

Correction: A previous version of this post said that one in 50,000 people have Marfan syndrome. One in 5,000 people have the disease. We regret the error.