Working Diagnosis:
Apical variant of hypertrophic cardiomyopathy

Treatment:
He was diagnosed with an apical variant of hypertrophic cardiomyopathy. At that time, he was medically disqualified from competitive athletics. Further work-up included a normal 24-hour holter monitor. He also performed an exercise treadmill test that demonstrated a hypertensive response to exercise, with maximum heart rate 200 beats per minute (bpm), and an age/gender matched functional capacity below average. His first degree relatives have been offered screening with ECG and echocardiograms, with optional genetic testing.

Outcome:
A complex discussion surrounding future recreational exercise also occurred. Due to benefits of exercise, the athlete was encouraged to perform mild levels of physical activity. Exercise limitations were guided by the American Heart Association physical activity recommendations for patients with genetic cardiovascular diseases. He was encouraged to perform exercise at a heart rate of

Author's Comments:
Markedly abnormal ECGs in apparently healthy young athletes may represent the initial expression of underlying cardiomyopathy. Pelliccia et al. found that 6% of athletes with markedly abnormal ECG patterns and initially normal structural evaluations developed cardiomyopathies when followed longitudinally. Deep T wave inversion may be one of the electrical manifestations of genetic disease prior to the development of structural changes seen on advanced imaging or adverse clinical outcomes. This case exemplifies the critical importance of continued surveillance and serial morphologic evaluations in young competitive athletes with such ECGs.

In contrast to a recent case report of a 33 year old international football player with diffusely distributed and deep T wave inversions, our athlete did not demonstrate normalization of his repolarization abnormalities with the onset of exercise, which would have been a better overall prognostic indicator. In that case, there were also no structural abnormalities evident on advanced imaging; hence, the athlete was cleared to play with the recommendation for serial evaluation.

Besides structural and electrical changes, our athlete also demonstrated a low peak oxygen consumption , another commonly associated feature of hypertrophic cardiomyopathy. Most athletes with HCM that engage in regular physical activity show low peak oxygen consumption irrespective of symptoms or left ventricular hypertrophy.

Few guidelines exist regarding exercise recommendations in athletes with genetic cardiovascular disease, such as hypertrophic cardiomyopathy, after disqualification from sporting activities. A consensus statement from the American Heart Association released in 2004 details potentially safe exercise options for patients with HCM. According to this, exercise such as bowling, golfing, stationary biking, and lap swimming, were probably permissible, while basketball, soccer, and sprinting were not. Arbitrary exercise recommendations can have limitations. For example, a collegiate athlete can over-exert him/herself while lap swimming and the ability to rescue a swimmer from cardiac arrest would be extremely difficult for many reasons, including access to a downed victim. Nevertheless, the underlying premise of the consensus statement is that vigorous exertion during physical activity increases the risk of sudden death in patients with genetic cardiovascular disease. Therefore, we recommended that our athlete exercise well below his maximum heart rate and anaerobic threshold with the goal that he be able to “talk or carry conversation� through exercise. For further guidance, we suggested that he exercise below 70% of his maximum HR (

References:
1. Corrado D, Pellicia A, Heidbuchel, et al. Recommendations for interpretation of 12-lead electrocardiogram in the athlete. Eur Heart J. 2010; 31: 243-259.

2. Pellicia A, Di Paolo FM, Quattrini FM, et al. Outcomes in athletes with marked ECG repolarization abnormalities. N Engl J Med. 2008; 358: 152-161.

3. Wilson MG, Chatard JC, Hamilton B, et al. Significance of deep T wave inversions in an asymptomatic athlete with a family history of sudden death. Clin J Sport Med. 2011; 21: 138-140.

4. Jones S, Elliot PM, Sharma S, et al. Cardiopulmonary responses to exercise in patients with hypertrophic cardiomyopathy. Heart. 1998; 80: 60-67.

5. Sharma S, Eliot PM, Whyte G, et al. Utility of metabolic exercise testing in distinguishing hypertrophic cardiomyopathy from physiologic LV hypertrophy in athletes. J Am Coll Cardiol. 2000; 36: 864-870.

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