McClellan Brittni, Govil Dhruva, Sherman Andrew, Bradley Christopher
Cardiology, Henry Ford Health System, Southfield, USA.
Internal Medicine, Henry Ford Health System, Southfield, USA.
Cureus. 2025 Aug 22;17(8):e90736. doi: 10.7759/cureus.90736. eCollection 2025 Aug.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare inherited cardiomyopathy marked by fibrofatty replacement of right ventricular (RV) myocardium, leading to electrical instability and increased risk for ventricular arrhythmias and sudden cardiac death (SCD). ARVC is typically inherited in an autosomal dominant pattern and often involves mutations in desmosomal proteins such as plakophilin-2 (PKP2). Clinical presentation can vary from asymptomatic to life-threatening arrhythmias, particularly among young athletes. This case emphasizes the importance of early detection and intervention in patients with ARVC. A 21-year-old previously healthy male presented with recurrent exertional syncope. Initial ECG demonstrated sinus rhythm with T-wave inversions in leads V1-V3. Coronary CT angiography and resting echocardiography were normal. However, the stress electrocardiogram revealed frequent premature ventricular complexes (PVCs) with a left bundle branch block morphology. Ambulatory event monitoring detected over 500 monomorphic PVCs in a 24-hour period. Cardiac MRI demonstrated mildly reduced RVEF (39%) with regional dyskinesia, meeting major diagnostic criteria per the 2010 Task Force Criteria for ARVC. Genetic testing confirmed a heterozygous pathogenic mutation (c.1689-1G>C) in the PKP2 gene. The patient was started on beta-blockers and underwent implantation of a single-chamber implantable cardioverter defibrillator (ICD) due to elevated arrhythmic risk. Post-implantation, the ICD successfully terminated three episodes of ventricular tachycardia, highlighting its life-saving role. This case underscores the necessity for a high index of suspicion when evaluating young patients with unexplained syncope or arrhythmias. Diagnosis of ARVC requires integration of clinical, electrocardiographic, imaging, and genetic data. Early diagnosis and prompt management, including activity modification, pharmacologic therapy, and ICD implantation, are critical to mitigating the risk of SCD. Genetic testing and vigilant follow-up remain essential components in the care of ARVC patients.
致心律失常性右室心肌病（ARVC）是一种罕见的遗传性心肌病，其特征是右心室（RV）心肌被纤维脂肪组织替代，导致电不稳定，增加室性心律失常和心源性猝死（SCD）的风险。ARVC通常以常染色体显性模式遗传，常涉及桥粒蛋白如盘状球蛋白-2（PKP2）的突变。临床表现从无症状到危及生命的心律失常不等，在年轻运动员中尤为常见。该病例强调了对ARVC患者进行早期检测和干预的重要性。一名21岁既往健康的男性出现反复劳力性晕厥。初始心电图显示窦性心律，V1-V3导联T波倒置。冠状动脉CT血管造影和静息超声心动图正常。然而，运动心电图显示频繁的室性早搏（PVC），呈左束支传导阻滞形态。动态心电图监测在24小时内检测到超过500个单形性PVC。心脏磁共振成像显示右室射血分数轻度降低（39%），伴有局部运动障碍，符合2010年ARVC工作组标准的主要诊断标准。基因检测证实PKP2基因存在杂合致病性突变（c.1689-1G>C）。由于心律失常风险升高，患者开始服用β受体阻滞剂并接受单腔植入式心脏复律除颤器（ICD）植入。植入后，ICD成功终止了3次室性心动过速发作，凸显了其挽救生命的作用。该病例强调了在评估不明原因晕厥或心律失常的年轻患者时保持高度怀疑的必要性。ARVC的诊断需要整合临床、心电图、影像学和基因数据。早期诊断和及时管理，包括调整活动、药物治疗和ICD植入，对于降低SCD风险至关重要。基因检测和密切随访仍然是ARVC患者护理的重要组成部分。
