Bennett Richard G, Haqqani Haris M, Berruezo Antonio, Della Bella Paolo, Marchlinski Francis E, Hsu Chi-Jen, Kumar Saurabh
Bristol Heart Institute, Bristol, UK.
Prince Charles Hospital, University of Queensland, Brisbane, Qld, Australia.
Heart Lung Circ. 2019 Jan;28(1):164-177. doi: 10.1016/j.hlc.2018.10.013. Epub 2018 Oct 24.
Arrhythmogenic cardiomyopathy (ACM) is now commonly used to describe any form of non-hypertrophic, progressive cardiomyopathy characterised by fibrofatty infiltration of the ventricular myocardium. Right ventricular (RV) involvement refers to the classical arrhythmogenic right ventricular cardiomyopathy, but left ventricular, or bi-ventricular involvement are now recognised. ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. ACM classically manifests as ventricular arrhythmias, and sudden death may be the first presentation of the disease. Heart failure is seen with advanced stages of the disease. Diagnosis can be challenging due to variable expressivity and incomplete penetrance, and is guided by established Taskforce criteria that incorporate electrical features (12-lead electrocardiography (ECG), features of ventricular arrhythmias), structural features (on imaging via echo and cardiac magnetic resonance imaging [MRI]), tissue characteristics (via biopsy), and familial/genetic evaluation. Electrical abnormalities may precede structural alterations, which also make diagnosis challenging, especially in differentiating ACM from other conditions such as benign right ventricular arrhythmias, channelopathies such as Brugada, or the Athlete's Heart. Genetic testing is critical in identifying familial mutations and initiating cascade testing, but finds a pathogenic mutation in only ∼50% of patients. Some critical genotype-phenotype correlations do exist and may help guide risk stratification and give clues to disease progression. Therapeutic strategies include restriction from high endurance and competitive sports, ß-blockers, antiarrhythmic drugs, heart failure medications, implantable cardioverter-defibrillators and combined endocardial/epicardial catheter ablation. Ablation has emerged as the treatment of choice for recurrent ventricular arrhythmias in ACM. This state-of-the-art review outlines the pathogenesis, diagnosis and treatment of ACM in the contemporary era.
致心律失常性心肌病（ACM）现在通常用于描述任何形式的非肥厚性、进行性心肌病，其特征是心室心肌发生纤维脂肪浸润。右心室受累指的是经典的致心律失常性右心室心肌病，但现在也认识到左心室或双心室受累的情况。ACM大多具有遗传性，与编码闰盘蛋白的基因突变有关。ACM典型地表现为室性心律失常，猝死可能是该疾病的首发表现。在疾病晚期可见心力衰竭。由于表达多变和外显不全，诊断可能具有挑战性，诊断依据是既定的工作组标准，该标准纳入了电学特征（12导联心电图（ECG）、室性心律失常特征）、结构特征（通过超声心动图和心脏磁共振成像[MRI]成像）、组织特征（通过活检）以及家族/基因评估。电学异常可能先于结构改变出现，这也使得诊断具有挑战性，尤其是在将ACM与其他病症（如良性右心室心律失常、Brugada等通道病或运动员心脏）区分开来时。基因检测对于识别家族性突变和启动级联检测至关重要，但仅在约50%的患者中发现致病突变。确实存在一些关键的基因型-表型相关性，可能有助于指导风险分层并为疾病进展提供线索。治疗策略包括限制进行高耐力和竞技性运动、使用β受体阻滞剂、抗心律失常药物、心力衰竭药物、植入式心脏复律除颤器以及联合心内膜/心外膜导管消融。消融已成为治疗ACM复发性室性心律失常的首选方法。这篇前沿综述概述了当代ACM的发病机制、诊断和治疗。
