Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy: From Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review

Background:  Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited neuromuscular disorder within the spectrum of nuclear envelope diseases, classically characterized by early musculo-tendinous contractures, slowly progressive myopathy and cardiac involvement dominated by conduction disease and arrhythmias, with variable evolution toward cardiomyopathy and heart failure. Methods: We performed a narrative synthesis of the contemporary literature, focusing on clinically relevant and high-impact evidence. Particular attention was given to diagnostic strategies, risk stratification, and therapeutic approaches applicable in real-world clinical settings. Results: Cardiac involvement in EDMD encompasses a broad spectrum, including atrial disease and conduction disturbances, ventricular arrhythmias, dilated cardiomyopathy, thromboembolic complications, and sudden cardiac death. The heterogeneity of phenotypic expression reflects underlying genetic diversity. Early recognition and systematic cardiovascular surveillance are essential to guide timely intervention, including device therapy and heart failure management. Despite growing awareness, significant gaps remain in risk prediction and standardized management pathways. Conclusions: EDMD represents a paradigmatic model of cardiomyopathy with prominent electrical instability and systemic implications. A structured, genotype- and phenotype-aware strategy, centered on early surveillance, targeted rhythm and thromboembolic risk management, and timely device therapy, can improve clinical decision-making in real-world settings. Future perspectives include the integration of precision medicine and the development of gene-targeted therapies, with the potential to shift from symptomatic management toward disease-modifying strategies. This narrative review aims to provide an updated and comprehensive, clinically actionable narrative synthesis of cardiovascular manifestations across EDMD genotypes and phenotypes, integrating rare and under-recognized high-impact presentations, and to outline pragmatic diagnostic and therapeutic pathways for real-world care while highlighting unmet needs and future directions.