Marfan Syndrome & Sports

Abstract & Commentary

Synopsis: A heightened awareness of the major and minor manifestations of Marfan syndrome is needed for prompt recognition of this autosomal dominant connective tissue disorder.

Source: Salim M, Alpert B. Sports and Marfan syndrome: Awareness and early diagnosis can prevent sudden death. Physician and Sports Medicine. 2001;29(5):80-90.

Salim and Alpert present an excellent review of Marfan syndrome (MFS), stressing the importance of awareness of this autosomal dominant disorder of connective tissue when evaluating athletes. The article has excellent charts: one enumerating "the clinical clues" of MFS and another listing by organ system the major and minor criteria that are needed to make the diagnosis. The revised Gent diagnostic criteria require major involvement in 2 organ systems with some involvement in a third organ system if the patient has no family history of MFS. With a positive family history of MFS, the index case needs one major criterion and the involvement of another organ system. The diagnosis can also be made if there is found a mutation known to cause MFS, a major criterion in one system, and involvement in a second organ system.

Salim and Alpert suggest including questions regarding a family history of MFS on history forms used for athlete screening exams, as well as evaluating athletes carefully during the physical examination for such major criteria as:

  • medial displacement of the medial malleolus causing pes planus;
  • pectus excavatum;
  • arm-span-to-height ratio greater than 1.05;
  • arachnodactyly;
  • the ability for the distal phalanx of the flexed thumb to extend beyond the ulnar surface of the hand;
  • the ability of the thumb to overlap the little finger when wrapped around the contralateral wrist;
  • ectopia lentis;
  • mitral valve prolapse (a mid-systolic click);
  • scoliosis;
  • a murmur of aortic regurgitation (diastolic murmur) or mitral regurgitation (late systolic murmur).

Salim and Alpert recommend that if an athlete is identified as having MFS, the athlete first needs a thorough evaluation by a specialist familiar with all of its manifestations. Even if deemed cardiovascularly stable, it is generally recommended that the athlete participate in sports with only minimal physical demands.

Comment by Letha Y. Griffin, MD, PhD

MFS is not rare (2 to 3 per 10,000), and since the physique associated with this syndrome (long arms) is an advantage in many sports (eg, volleyball and basketball), MFS can be found in successful athletes. Perhaps one of the most famous examples is that of Flo Hyman, who died tragically from a ruptured aortic aneurysm as a complication of this disease.

One must also remember that MFS is a progressive disorder and hence manifestations in various organ systems may develop over time. For this reason, those identified with the syndrome need to be monitored regularly. As once stated, "we look for what we know . . ." Therefore, those involved in the care of athletes need to have a heightened awareness of this syndrome.