Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular disease

Abstract

Arrhythmogenic ventricular cardiomyopathy (AVC) is generally referred to as arrhythmogenic right ventricular (RV) cardiomyopathy/dysplasia and constitutes an inherited cardiomyopathy. Affected patients may succumb to sudden cardiac death (SCD), ventricular tachyarrhythmias (VTA) and heart failure. Genetic studies have identified causative mutations in genes encoding proteins of the intercalated disk that lead to reduced myocardial electro-mechanical stability. The term arrhythmogenic RV cardiomyopathy is somewhat misleading as biventricular involvement or isolated left ventricular (LV) involvement may be present and thus a broader term such as AVC should be preferred. The diagnosis is established on a point score basis according to the revised 2010 task force criteria utilizing imaging modalities, demonstrating fibrous replacement through biopsy, electrocardiographic abnormalities, ventricular arrhythmias and a positive family history including identification of genetic mutations. Although several risk factors for SCD such as previous cardiac arrest, syncope, documented VTA, severe RV/LV dysfunction and young age at manifestation have been identified, risk stratification still needs improvement, especially in asymptomatic family members. Particularly, the role of genetic testing and environmental factors has to be further elucidated. Therapeutic interventions include restriction from physical exercise, beta-blockers, sotalol, amiodarone, implantable cardioverter-defibrillators and catheter ablation. Life-long follow-up is warranted in symptomatic patients, but also asymptomatic carriers of pathogenic mutations.

Keywords: Arrhythmogenic right ventricular dysplasia/cardiomyopathy; Arrhythmias; Ventricular tachycardia; Sudden cardiac death; Implantable cardioverter defibrillator

Core tip: This manuscript constitutes an updated overview about arrhythmogenic ventricular cardiomyopathy (AVC) and describes well the paradigm shift in the understanding of AVC from an isolated right-sided entity to biventricular disease that can present with multiple facets. The most recent advances in molecular and clinical research are discussed, with particular focus on genetic novelties and risk stratification. We believe that this review will help clinicians to better understand the pathomechanisms that lead to AVC, its diagnosis and state-of-the-art therapeutic decision making.