Preparticipation Screening - Volleyball

Abstract

HISTORY: A 20 year-old male college volleyball player came in as part of his school's preparticipation physical evaluation (PPE). The provider that saw him noted that he had some physical manifestations of Marfan's Syndrome: male height 79″, heart murmur, nearsightedness (myopia), and high arched palate. The player's standard PPE questionnaire was negative. Review of systems revealed no chest pain, shortness of breath, syncope, or near-syncope. There was no history of heart problems, joint dislocations/laxity, or skin problems. He did wear contact lenses for his myopia and no recent change to his ocular prescription. Family history revealed tall siblings (two sisters 75″ and 76″) and father 79″, mother 71″. One of his sisters has mitral valve prolapse. PHYSICAL EXAMINATION: Height: 79″, Arm Span: 81.5″, Weight: 212 pounds, Pulse: 92 (equal in all four extremities), Blood Pressure: 133/74. Routine PPE screening was normal except as indicated. Exam of the oral cavity was significant for a high arched palate. Cardiac exam demonstrated a II/VI systolic murmur heard best in the apex and no change with squatting. Musculoskeletal exam showed no joint laxity and no signs of arachnodactyly; the “Wrist sign” (or Walker sign) was negative, but there was a positive “Thumb sign” (or Steinberg sign). DIFFERENTIAL DIAGNOSIS: Marfan's Syndrome Marfan's Syndrome Variant Ehlers-Danlos Syndrome Mitral Valve Prolapse Normal Variant TEST and RESULTS: Electrocardiogram (EKG): Normal Sinus Rhythm at 90, otherwise normal. Echocardiogram: Enlarged left ventricle [5.8 cm - diastolic (<5.6 normal); 4.2 cm -systolic (<4.0 normal); borderline aortic root size [3.7 cm (<3.7 normal)]; borderline mitral valve prolapse with mitral regurgitation. Optometry Evaluation: No ocular manifestations of Marfan's Syndrome except myopia. FINAL WORKING DIAGNOSIS: Mitral valve prolapse; otherwise normal variant (normal aortic dimension for age and body size) TREATMENT AND OUTCOMES: SBE Prophylaxis for mitral valve prolapse. Cleared for full athletic participation. Repeat ECHO in two years (recommended by The Johns Hopkins Comprehensive Marfan Clinic).