Lüsebrink Enzo, Binzenhöfer Leonhard, Brunner Stefan, Hausleiter Jörg, Massberg Steffen, Orban Martin, Kääb Stefan
Department of Medicine I, University Hospital, Ludwig-Maximilians University Munich (LMU), Marchioninistrasse 15, 81377 Munich, Germany.
DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Eur Heart J Case Rep. 2021 Oct 12;5(11):ytab417. doi: 10.1093/ehjcr/ytab417. eCollection 2021 Nov.
Arrhythmogenic right ventricular cardiomyopathy (ARVC)/dysplasia is a genetic disease characterized by fibro-adipose degeneration of ventricular myocardium. Initial clinical presentation is variable and ranges from asymptomatic cases to chronic heart failure and sudden cardiac death due to malignant arrhythmias.
Here, a 67-year-old male patient who started extensive physical training upon retirement and presented with ventricular tachycardia and progressive heart failure as a first sign of his disease. Arrhythmogenic right ventricular cardiomyopathy diagnosis was established according to the 2010 modified Task Force Criteria and supported by HRS/EHRA consensus-based genotyping. After initial discharge on optimal medical therapy and prophylactic implantable cardioverter-defibrillator implantation according to his individual ARVC risk score, the patient reported rapid decline in physical capacity on a regular follow-up 4 months later. To better understand the aetiology of his clinical deterioration, we performed stress echocardiography, coronary angiogram, and exercise right heart catheterization, which conclusively suggest impaired left ventricular filling secondary to right ventricular failure as a main cause of global circulatory failure.
The present case report focuses on relation of physical activity to disease onset and the concomitant advent of symptoms during exercise as well as a structured and guideline-aided diagnostic workup in ARVC and staged treatment options. Continuous ARVC centre-oriented re-assessment and treatment planning including lifestyle intervention, psychological support, medical, surgical, and interventional options are key elements of sustained long-term care for ARVC patients.
致心律失常性右室心肌病（ARVC）/发育异常是一种以心室心肌纤维脂肪变性为特征的遗传性疾病。其初始临床表现多样，从无症状病例到慢性心力衰竭以及因恶性心律失常导致的心脏性猝死。
在此，一名67岁男性患者退休后开始大量体育锻炼，最初表现为室性心动过速和进行性心力衰竭。根据2010年修订的工作组标准确立了致心律失常性右室心肌病的诊断，并得到基于HRS/EHRA共识的基因分型的支持。在根据其个体ARVC风险评分接受最佳药物治疗并预防性植入植入式心律转复除颤器后首次出院，4个月后的定期随访中患者报告体能迅速下降。为更好地理解其临床恶化的病因，我们进行了负荷超声心动图、冠状动脉造影和运动性右心导管检查，结果明确提示继发于右室衰竭的左室充盈受损是整体循环衰竭的主要原因。
本病例报告重点关注体力活动与疾病发作的关系、运动期间伴随症状的出现以及ARVC的结构化且遵循指南的诊断检查和分期治疗方案。以ARVC中心为导向的持续重新评估和治疗规划，包括生活方式干预、心理支持、药物、手术和介入治疗选择，是ARVC患者长期持续护理的关键要素。
