Martínez-Solé Julia, Sabater-Molina María, Braza-Boïls Aitana, Santos-Mateo Juan J, Molina Pilar, Martínez-Dolz Luis, Gimeno Juan R, Zorio Esther
Cardiology Department, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Laboratorio de Cardiogenética, Unidad de Cardiopatías Familiares, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Murcia, Spain.
Front Cardiovasc Med. 2021 Oct 18;8:702560. doi: 10.3389/fcvm.2021.702560. eCollection 2021.
Arrhythmogenic cardiomyopathy (ACM) is a genetic cardiac condition characterized by fibrofatty myocardial replacement, either at the right ventricle, at the left ventricle, or with biventricular involvement. Ventricular arrhythmias and heart failure represent its main clinical features. Exercise benefits on mental and physical health are worldwide recognized. However, patients with ACM appear to be an exception. A thorough review of the literature was performed in PubMed searching for original papers with the terms "ARVC AND sports/exercise" and "sudden cardiac death AND sports/exercise." Additional papers were then identified through other sources and incorporated to the list. All of them had to be based on animal models or clinical series. Information was structured in a regular format, although some data were not available in some papers. A total of 34 papers were selected and processed regarding sports-related sudden cardiac death, pre-clinical models of ACM and sport, and clinical series of ACM patients engaged in sports activities. Eligible papers were identified to obtain pooled data in order to build representative figures showing the global incidence of the most important causes of sudden cardiac death in sports and the global estimates of life-threatening arrhythmic events in ACM patients engaged in sports. Tables and figures illustrate their major characteristics. The scarce points of controversy were discussed in the text. Fundamental concepts were summarized in three main issues: sports may accelerate ACM phenotype with either structural and/or arrhythmic features, restriction may soften the progression, and these rules also apply to phenotype-negative mutation carriers. Additionally, remaining gaps in the current knowledge were also highlighted, namely, the applicability of those fundamental concepts to non-classical ACM phenotypes since left dominant ACM or non-plakophillin-2 genotypes were absent or very poorly represented in the available studies. Hopefully, future research endeavors will provide solid evidence about the safest exercise dose for each patient from a personalized medicine perspective, taking into account a big batch of genetic, epigenetic, and epidemiological variables, for instance, in order to assist clinicians to provide a final tailored recommendation.
致心律失常性心肌病（ACM）是一种遗传性心脏疾病，其特征是右心室、左心室或双心室出现纤维脂肪性心肌替代。室性心律失常和心力衰竭是其主要临床特征。运动对身心健康的益处已得到全球公认。然而，ACM患者似乎是个例外。我们在PubMed上对文献进行了全面检索，搜索了标题中包含“致心律失常性右室心肌病（ARVC）与运动/锻炼”以及“心源性猝死与运动/锻炼”的原始论文。然后通过其他来源识别出更多论文并纳入列表。所有这些论文都必须基于动物模型或临床系列研究。信息以常规格式整理，尽管有些论文中没有某些数据。我们共筛选并处理了34篇关于与运动相关的心源性猝死、ACM的临床前模型与运动以及参与体育活动的ACM患者临床系列研究的论文。确定符合条件的论文以获取汇总数据，以便构建具有代表性的数据图，展示运动中心源性猝死最重要原因的全球发病率以及参与运动的ACM患者危及生命的心律失常事件的全球估计数。表格和数据图展示了它们的主要特征。文中讨论了少数存在争议的要点。基本概念总结为三个主要问题：运动可能会加速具有结构和/或心律失常特征的ACM表型，限制运动可能会减缓疾病进展，并且这些规则也适用于表型阴性的突变携带者。此外，还强调了当前知识中仍然存在的空白，即由于左心室优势型ACM或非盘状球蛋白2基因型在现有研究中缺失或研究极少，这些基本概念对非经典ACM表型的适用性。希望未来的研究能够从个性化医疗的角度，考虑大量的遗传、表观遗传和流行病学变量，为每位患者提供最安全运动剂量的有力证据，例如，以协助临床医生提供最终的个性化建议。
