Physiological left ventricular hypertrophy in athletes often blurs the diagnostic line with hypertrophic cardiomyopathy (HCM), necessitating a critical differentiation to avert sudden cardiac death (SCD). This review explores various diagnostic approaches and proposes a well-founded strategy. The electrocardiogram (ECG) emerges as a highly sensitive HCM diagnostic tool, revealing characteristic changes in over 90% of cases. Holter monitoring aids in arrhythmia detection, yet its role in estimating SCD risk is subject to debate. Echocardiography encounters challenges in distinguishing HCM from normal athlete hearts. Cardiac magnetic resonance imaging (CMRI) enhances diagnostics by uncovering focal hypertrophy and fibrosis, with the absence of these markers not excluding HCM. Stress tests and family history provide invaluable diagnostic clues, and while genetic testing is not routine, its potential in uncovering hereditary factors is promising. Mandatory limitations on athletic activity for those with HCM are justified, given the heightened SCD risk during high-intensity sports. Extended diagnostic tests in borderline cases and universal screening for athletes are imperative for accurate risk assessment and the implementation of preventive measures. This comprehensive strategy integrates diverse diagnostic tools, ensuring a timely and precise identification of HCM, thereby mitigating the risk of SCD in the athletic community.
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