Arrhythmogenic Cardiomyopathy

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease characterized by progressive fibro-fatty replacement of the ventricular myocardium, predisposing to ventricular arrhthmias, heart failure, and sudden cardiac death. Historically described as arrhythmogenic right ventricular cardiomyopathy (ARVC), ACM is now recognized as a heterogeneous disease including right-dominant, left-dominant, and biventricular phenotypes, reflecting major advances in cardiac imaging, genetics and disease classification. In this chapter, we provided an updated synthesis of the key clinica, diagnostic and therapeutic aspects of ACM. Current knowledges supports a multiparametric and phenotype-oriented diagnostic approach integrating clinical history, electrocardiography, multimodality imaging, cardiovascular magnetic resonance (CMR), and genetic testing. Diagnostic frameworks have progressively expanded from the 2010 International Task Force Criteria to the Padua Criteria, the 2023 European Society of Cardiology Guidelines, and the recently proposted 2024 European Task Force criteria. CMR has assumed a central role in detecting structural abnormalities and fibrosis, while genetic testing contributed to diagnostic confirmation, family screening, and the identification of genotype-phenotype associations. Clinical expression of ACM is highly variable, ranging from asymptomatic disease to major ventricular arrhythmias and progressive ventricular dysfunction. Exercise represents an important disease modifier, and restriction of high-intensity physical activity remains a cornerstone of management. Treatment depends on individual clinical profile and may include pharmacological therapy, catheter ablation, and implantable cardioverter-defibrillator. Arrhythmic risk stratification combines clinical, electrical, imaging and genetic variables, althogh accurate prediction of major ventricular arrhythmias remains challenging. Recent advances in genotype-specific risk assessment and prediction models are supporting a more individualized approach to clinical decisions. Emerging gene replacement and genome-editing strategies raise the prospect of disease-modifying therapis in selected forms of ACM.