From Genes to Gym: The Impact of Physical Exercise on Arrhythmogenic Right Ventricular Cardiomyopathy

Adam Kucharski, Konrad Pilarski, Rafał Makuch, Alicja Chrościcka, Kamil Gała, Andrzej Czajka, Paweł Lenard, Sara Michalska, Martyna Dewicka, Alicja Maria Wawrzyniak
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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary heart muscle disorder characterized by the progressive replacement of right ventricular myocardium with fibrofatty tissue. This condition predisposes individuals to arrhythmias and an elevated risk of sudden cardiac death (SCD). The etiology of ARVC is predominantly genetic, with mutations in genes encoding desmosomal proteins playing a crucial role. Physical exercise has a significant impact on the progression of ARVC, often exacerbating the disease's severity and increasing the likelihood of life-threatening arrhythmic events. Diagnosing ARVC remains challenging due to its variable clinical presentation and overlapping features with other cardiomyopathies. Advanced imaging techniques, electrocardiography, and genetic testing are essential tools in the diagnostic process. Treatment strategies for ARVC include lifestyle modifications, pharmacotherapy, implantable cardioverter-defibrillators (ICDs), and in some cases, catheter ablation or heart transplantation. Preventing disease progression and SCD involves a multidisciplinary approach, emphasizing early diagnosis, risk stratification, and tailored therapeutic interventions. This review comprehensively examines the etiology of ARVC, the detrimental effects of physical exercise on the disease, the associated SCD risk, and the challenges in diagnosis, while also discussing current treatment modalities and preventive measures to mitigate disease progression. Materials and Methods Review and summary of research studies available in databases on Google Scholar and PubMed. Databases such as PubMed and Google Scholar were searched using the keywords: ‘Arrhythmogenic right ventricular cardiomyopathy, ‘ARVC in athletes’, ‘Sudden cardiac death’, ‘impact of physical exercise on ARVC’.
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从基因到健身房:体育锻炼对心律失常性右室心肌病的影响
致心律失常性右心室心肌病(ARVC)是一种遗传性心肌疾病,其特征是右心室心肌逐渐被纤维脂肪组织取代。这种疾病易导致心律失常,并增加心脏性猝死(SCD)的风险。ARVC 的病因主要是遗传因素,其中编码脱膜蛋白的基因突变起着至关重要的作用。体育锻炼对 ARVC 的病情发展有重大影响,往往会加重疾病的严重程度,增加发生危及生命的心律失常事件的可能性。由于 ARVC 的临床表现多变,且与其他心肌病的特征重叠,因此诊断 ARVC 仍具有挑战性。先进的成像技术、心电图和基因检测是诊断过程中必不可少的工具。ARVC 的治疗策略包括改变生活方式、药物治疗、植入式心律转复除颤器 (ICD),在某些情况下还可进行导管消融或心脏移植。预防疾病进展和 SCD 需要采用多学科方法,强调早期诊断、风险分层和有针对性的治疗干预。本综述全面探讨了 ARVC 的病因、体育锻炼对疾病的不利影响、相关的 SCD 风险和诊断中的挑战,同时还讨论了当前的治疗模式和预防措施,以缓解疾病进展。材料与方法 对谷歌学术和 PubMed 数据库中的研究进行回顾和总结。使用关键字搜索 PubMed 和 Google Scholar 等数据库:致心律失常性右室心肌病"、"运动员中的 ARVC"、"心脏性猝死"、"体育锻炼对 ARVC 的影响"。
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