I have a healthy 16-year-old patient who needs a preparticipation physical examination. The family history is significant for the father’s sudden death from a thoracic aortic aneurysm at 42 years of age. How far should I pursue the workup?
—— Glenn G. Miller, DO
The major goals of the screening sports preparticipation physical evaluation (PPE) are to detect life-threatening or disabling conditions and conditions that predispose to injury or illness in the athlete or others. The current recommendations for a PPE in the United States include only an appropriate history and examination. Although the European Society of Cardiology recommends annual ECG screening of athletes, this has not been endorsed by cardiologists in the United States because of the frequency of false-positive results, which necessitate further testing. It has been estimated that if the European protocol were adopted in the United States, it would cost $30 million to detect 1 high school athlete at risk for sudden cardiac death.
Clues from the history. The Preparticipation Monograph1 and the American Heart Association (AHA)2 emphasize that positive responses to certain questions indicate possible cardiac disease (Table). These questions are used to screen for the most common causes of sudden death in young athletes in the United States:
•Anomalous coronary vessels.
•Left ventricular hypertrophy.
•Ruptured aortic aneurysm (associated with Marfan syndrome).3
What to include in the physical. The AHA and the Preparticipation Monograph recommend an appropriate cardiovascular examination in all student athletes that includes vital signs, palpation of pulses, auscultation, and examination for marfanoid findings. Unfortunately, most athletes at risk for sudden death have no abnormal examination findings, and in less than 50% of cases of sudden death there was no history of cardiac symptoms, which might have prompted a more detailed examination.
Screening for Marfan syndrome. With your patient, the concern is that he may have Marfan syndrome. This connective-tissue disorder—which affects the cardiovascular, musculoskeletal, and ophthalmological systems— is caused by a mutation in the fibrillin-1 gene on chromosome 15, which encodes for production of a glycoprotein essential for the production of elastin. More than 400 different mutations have been described.
Cardiovascular findings may include cystic medial necrosis of the aorta, mitral regurgitation, mitral valve prolapse, and aortic regurgitation. Musculoskeletal changes may include tall, lean body habitus, long slender fingers and toes, high-arched palate, pectus excavatum, and scoliosis. Eye changes result in astigmatism and lens subluxation or dislocation. The diagnosis requires the presence of 2 of the following factors: positive family history, ocular changes, cardiovascular changes, skeletal changes. Unfortunately, because the stigmata of Marfan syndrome have variable penetrance, these are often difficult to detect.
Obtaining a more extensive family history in your patient would be helpful (autopsy information or information on diseases in other family members). If the findings of his examination are entirely normal (the musculoskeletal, ophthalmological, and cardiac examinations may require expert consultation), a positive diagnosis is less likely. Echocardiography is a relatively inexpensive, noninvasive test that would assist with your clearance, and I would recommend that you strongly consider an echocardiogram in this patient.
—— Robert J. Dimeff, MD
Director of Primary Care Sports Medicine
Director of Sports Health Community Affairs
The Cleveland Clinic
1. American Academy of Family Physicians, American Academy of Pediatrics, American College of Sports Medicine, et al. Preparticipation Physical Evaluation: A Monograph. 3rd ed. Minneapolis: McGraw-Hill; 2005.
2. Maron BJ, Thompson PD, Ackerman MJ, et al. Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes: 2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and Metabolism. Circulation. 2007;115:1643-1655.
3. Maron BJ, Shirani J, Poliac LC, et al. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA. 1996;276:199-204.