Green Lane Cardiovascular Service, Cardiology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand.
Heart Lung Circ. 2011 Dec;20(12):757-60. doi: 10.1016/j.hlc.2011.07.019. Epub 2011 Aug 31.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an uncommon inherited myocardial disorder characterised by fibro-fatty inflammation affecting the right and left ventricles. It most commonly presents with palpitations or syncope but sudden death may occur, especially in young males.
Diagnosis is not possible with a single test and may be difficult. Task Force criteria agreed in 1994 comprise major and minor criteria spanning structural abnormalities, ECG appearances, arrhythmias, family history of premature death and myocardial histology. Modified criteria were introduced in 2010 to improve sensitivity.
Arrhythmogenic right ventricular cardiomyopathy is a desmosomal disease. Mutations have been detected in five desmosomal genes, most frequently in plakophilin-2 (PKP2) and multiple mutations are also reported. Antiarrhythmic drugs such as sotalol and amiodarone may improve symptoms but are unproven to increase survival. An implantable defibrillator is appropriate in individuals surviving cardiac arrest or sustained ventricular tachycardia, but there is not yet consensus about prophylactic treatment of Task Force positive but asymptomatic individuals.
Arrhythmogenic right ventricular cardiomyopathy is more common than previously believed. Preliminary evidence supports improved sensitivity without loss of specificity using the revised Task Force criteria. The genetics of the disease are complex but should ultimately advance diagnosis and management.
致心律失常性右室心肌病（ARVC）是一种罕见的遗传性心肌疾病，其特征为影响右心室和左心室的纤维脂肪性炎症。它最常表现为心悸或晕厥，但也可能发生猝死，尤其是在年轻男性中。
单一测试无法诊断该病，且可能较为困难。1994 年达成的工作组标准包括主要和次要标准，涵盖结构异常、心电图表现、心律失常、家族性早逝和心肌组织学。2010 年引入了改良标准以提高敏感性。
致心律失常性右室心肌病是一种桥粒病。已在五个桥粒基因中检测到突变，最常见于 plakophilin-2（PKP2），也报告了多种突变。索他洛尔和胺碘酮等抗心律失常药物可能改善症状，但尚未证实能提高生存率。植入式除颤器适用于心脏骤停或持续性室性心动过速的个体，但对于工作组阳性但无症状个体的预防性治疗，尚未达成共识。
致心律失常性右室心肌病比以前认为的更为常见。初步证据支持使用修订后的工作组标准提高敏感性而不失特异性。该疾病的遗传学较为复杂，但最终应能促进诊断和管理。
