Syncope in the athlete - Minor changes, major diagnosis!

We report the case of a 17-year-old athlete who resorted to the emergency department for palpitations and dizziness while exercising. He mentioned two exercise-associated episodes of syncope in the last six months. He was tachycardic and hypotensive. The electrocardiogram showed regular wide complex tachycardia, left bundle branch block morphology with superior axis restored to sinus rhythm after electrical cardioversion. In sinus rhythm, it showed T-wave inversion in V1-V5. Transthoracic echocardiography revealed mild dilation and dysfunction of the right ventricle (RV) with global hypocontractility. Cardiac magnetic resonance (CMR) revealed a RV end diastolic volume indexed to body surface area of 180 ml/m2, global hypokinesia and RV dyssynchrony, subepicardial late enhancement in the distal septum and in the middle segment of the inferoseptal wall. The patient underwent a genetic study which showed a mutation in the gene that encodes the desmocolin-2 protein (DSC-2), which is involved in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC). According to the modified Task Force Criteria for this diagnosis, the patient presented four major criteria for ARVC. Thus, a subcutaneous cardioverter was implanted, and the patient was followed up at the cardiology department. Arrhythmogenic right ventricular cardiomyopathy diagnosis is based on structural, functional, electrophysiological and genetic criteria reflecting underlying histological changes. This case depicts the essential characteristics for disease recognition.