Natália Vaňová, Viola Vargová, Drahomíra Schwartzová st., Claudia Gibarti, Nikoleta Hamašová
We present the case report of a patient – professional athlete – with a diagnosis of hypertrophic cardiomyopathy (HCMP), which was diagnosed also due to pre-participating screening in athletes. In this case, we chronologically present examinations in a professional athlete, who at the age of 17 underwent a routine pre-participating screening. In this study, a 12-lead ECG examination led to suspected left ventricular hypertrophy. Then, echocardiographic examination and magnetic resonance imaging led to diagnosing hypertrophic cardiomyopathy. Genetic examination confirmed the mutation of 3 genes encoding myocardial sarcomere proteins. Based on the diagnosis of hypertrophic cardiomyopathy, according to the international recommendations, and given the risk of sudden cardiac death, we recommended discontinuing the patient’s professional sports career.