Unravelling the gaps in diagnosis and management of arrhythmogenic cardiomyopathy

This invited editorial refers to ‘Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research', by L. Iezzi et al.,https://doi.org/10.1093/ehjqcco/qcaf029. Arrhythmogenic cardiomyopathy (ACM) presents one of the most complex diagnostic and therapeutic challenges in inherited heart diseases. Although estimated to be a rare disease and classically affecting the right ventricular disorder, it has been consistently reported as one of the most common causes of sudden cardiac death (SCD) around the world.1 ACM is now recognized as a broader condition, and heterogeneous disease that can involve the right ventricle (RV), left ventricle (LV), or both, with overlapping genetic and phenotypic features.1 However, this expanding understanding has not been met with equivalent clarity in clinical guidelines, leading to inconsistencies in diagnosis, risk stratification, and management. Despite major advances in cardiac imaging, genetic testing, and risk prediction tools, clinicians continue to face substantial uncertainties in real-world decision-making. Key questions remain unresolved: Who should receive an implantable defibrillator? How should genotype-positive but phenotype-negative individuals be managed? Are current diagnostic frameworks interchangeable or complementary? The lack of consensus among international guidelines only deepens these challenges and contributes to variability in clinical practice.