Department of Cardiovascular Medicine, University Hospital, University of Leuven, Belgium.
Heart. 2010 Aug;96(16):1268-74. doi: 10.1136/hrt.2009.189621. Epub 2010 Jun 4.
To determine the prevalence of desmosomal gene mutations in athletes with complex arrhythmias (VA) of right ventricular (RV) origin and structural RV abnormalities to evaluate whether there is sufficient genetic overlap with arrhythmogenic right ventricular cardiomyopathy (ARVC) to consider them the same or different entities.
Observational cohort
Tertiary hospital referrals
Forty-seven consecutive athletes (age 42 (11) years) with complex VA of RV morphology (excluding idiopathic right ventricular outflow tract ventricular tachycardia), who performed 14 (9) h/week of moderate to intense sport practise for 19 (9) years.
Clinical evaluation (detailed sports history, multi-modality imaging, electrophysiological study) and sequencing of five candidate desmosomal genes.
A clinical diagnosis of definite or suspected ARVC by task force criteria (TFC) was met in 24 (51%) and 17 (36%), respectively. ARVC classification was not related to the rate of major arrhythmic events (p=0.28). Pathogenic mutations (four novel) were identified in six athletes (12.8%), which is below published rates for familial ARVC (27-52%). Moreover, only two athletes had a suggestive family history. Severe RV dysfunction was more frequent in mutation carriers (33% vs 2%, p=0.04), but otherwise TFC features were similar to those without mutations. No mutations were found in the 20 athletes performing more than average weekly exercise, yet all met the criteria for definite or suspected ARVC.
In this athletic cohort, we found lower than expected rates of desmosomal gene mutations, particularly among those performing the most exercise. This adds further weight to the hypothesis that an ARVC-like phenotype may be acquired through intense exercise without an identifiable genetic predisposition.
确定具有右心室（RV）起源复杂心律失常（VA）和结构性 RV 异常的运动员中桥粒基因突变更替的发生率，以评估它们与致心律失常性右心室心肌病（ARVC）是否存在足够的遗传重叠，从而将其视为同一疾病或不同疾病实体。
观察性队列研究
三级医院转诊
47 名连续运动员（年龄 42（11）岁），具有 RV 形态复杂的 VA（不包括特发性右心室流出道室性心动过速），每周进行 14（9）小时/周的中等到剧烈运动，运动年限为 19（9）年。
临床评估（详细的运动史、多模式成像、电生理研究）和五个候选桥粒基因的测序。
根据工作组标准（TFC），24 名（51%）和 17 名（36%）患者分别被诊断为 ARVC 的明确或疑似病例。ARVC 分类与主要心律失常事件的发生率无关（p=0.28）。6 名运动员（12.8%）发现了致病性突变（4 个新突变），这低于家族性 ARVC 的报告率（27-52%）。此外，只有 2 名运动员有可疑的家族史。突变携带者的 RV 功能严重障碍更为常见（33%对 2%，p=0.04），但其他 TFC 特征与无突变者相似。在 20 名每周运动超过平均水平的运动员中未发现突变，但所有患者均符合明确或疑似 ARVC 的标准。
在这个运动员队列中，我们发现桥粒基因突变的发生率低于预期，尤其是在运动最多的运动员中。这进一步支持了以下假设，即 ARVC 样表型可能通过剧烈运动获得，而没有可识别的遗传倾向。
