Chung Fa-Po, Lin Yenn-Jiang, Chang Shih-Lin, Lo Li-Wei, Hu Yu-Feng, Tuan Ta-Chuan, Chao Tze-Fan, Liao Jo-Nan, Chiou Chuen-Wang, Chen Shih-Ann
Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine, and Cardiovascular Research Center, National Yang-Ming University, Taipei, Taiwan.
Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
J Cardiol. 2015 Jun;65(6):441-50. doi: 10.1016/j.jjcc.2014.12.023. Epub 2015 Mar 25.
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited genetic disease caused by defective desmosomal proteins, and it has typical histopathological features characterized by predominantly progressive fibro-fatty infiltration of the right ventricle. Clinical presentations of ARVD/C vary from syncope, progressive heart failure (HF), ventricular tachyarrhythmias, and sudden cardiac death (SCD). The 2010 modified Task Force criteria were established to facilitate the recognition and diagnosis of ARVD/C. An implantable cardiac defibrillator (ICD) remains to be the cornerstone in prevention of SCD in patients fulfilling the diagnosis of definite ARVD/C, especially among ARVD/C patients with syncope, hemodynamically unstable ventricular tachycardia (VT), ventricular fibrillation, and aborted SCD. Further risk stratification is clinically valuable in the management of patients with borderline or possible ARVD/C and mutation carriers of family members. However, given the entity of heterogeneous penetrance and non-uniform phenotypes, the standardization of clinical practice guidelines for at-risk individuals will be the next frontier to breakthrough. Antiarrhythmic drugs are prescribed frequently to patients experiencing frequent ventricular tachyarrhythmias and/or appropriate ICD shocks. Amiodarone is the recommended drug of choice. Radiofrequency catheter ablation (RFCA) has been demonstrated to effectively eliminate the drug-refractory VT in patients with ARVD/C. However, the efficacy and clinical prognosis of RFCA via endocardial approach alone was disappointing prior to the era of epicardial approach. In recent years, it has been proven that the integration of endocardial and epicardial ablation by targeting the critical isthmus or eliminating abnormal electrograms within the diseased substrates could yield higher acute success and lower recurrence of ventricular tachyarrhythmias during long-term follow-up. Heart transplantation is the final option for patients with extensive disease, biventricular HF with uncontrollable hemodynamic compromise, and refractory ventricular tachyarrhythmias despite aggressive medical and ablation therapies.
致心律失常性右室发育不良/心肌病（ARVD/C）是一种由桥粒蛋白缺陷引起的遗传性疾病，具有典型的组织病理学特征，主要表现为右心室进行性纤维脂肪浸润。ARVD/C的临床表现包括晕厥、进行性心力衰竭（HF）、室性快速心律失常和心源性猝死（SCD）。2010年修订的工作组标准旨在促进ARVD/C的识别和诊断。植入式心脏除颤器（ICD）仍然是预防确诊ARVD/C患者发生SCD的基石，尤其是在有晕厥、血流动力学不稳定的室性心动过速（VT）、心室颤动和SCD未遂的ARVD/C患者中。进一步的风险分层在边缘性或可能的ARVD/C患者以及家庭成员突变携带者的管理中具有临床价值。然而，鉴于其具有异质性外显率和不一致的表型，针对高危个体的临床实践指南的标准化将是下一个需要突破的前沿领域。抗心律失常药物常用于频繁发生室性快速心律失常和/或ICD适当放电的患者。胺碘酮是推荐的首选药物。射频导管消融（RFCA）已被证明可有效消除ARVD/C患者的药物难治性VT。然而，在心外膜途径出现之前，单纯经心内膜途径的RFCA的疗效和临床预后令人失望。近年来，已证实通过靶向关键峡部或消除病变基质内的异常心电图，将心内膜和心外膜消融相结合，可在长期随访中获得更高的急性成功率和更低的室性快速心律失常复发率。心脏移植是患有广泛疾病、伴有无法控制的血流动力学损害的双心室HF以及尽管积极进行药物和消融治疗仍有难治性室性快速心律失常患者的最终选择。
