Arrhythmogenic Cardiomyopathy in 2018–2019: ARVC/ALVC or Both?

Abstract

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.