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Unveiling Arrhythmogenic Cardiomyopathy Masquerading as Myocarditis in a Professional Athlete
Deen L Garba1, Semenawit Burka1, Aakash Bavishi2
1Sports Cardiology Program, Ciccarone Center for the Prevention of Cardiovascular Disease, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Background:
Elite athletes undergoing cardiovascular screening may present with findings that necessitate further work-up based on consensus electrocardiographic criteria. These findings may reveal conditions that may affect their cardiovascular health and livelihood.
Case Summary:
We present the case of an asymptomatic elite American-style football player with lateral T-wave inversions, frequent premature ventricular contractions, mildly reduced ejection fraction, and progressive myocardial scarring on cardiac magnetic resonance imaging. Genetic testing revealed a pathogenic desmin (DES) variant associated with arrhythmogenic and dilated cardiomyopathy spectrum.
Discussion:
After multidisciplinary evaluation and extensive shared decision-making, the athlete was initially withheld from play. Given the absence of a plakophilin-2 (PKP2) mutation, lack of sustained ventricular arrhythmias, and preserved functional capacity, and after extensive shared decision-making, the athlete returned to play with strict longitudinal surveillance.
Take-Home Message:
This case highlights the complexity of integrating advanced imaging, genetics, and athlete values into return-to-play decisions, and the ethical challenges when medical uncertainty intersects with professional identity and livelihood.
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