Olimpia Trio

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. This narrative review provides a comprehensive and clinically actionable synthesis of cardiovascular manifestations across EDMD genotypes and phenotypes, outlining pragmatic diagnostic and therapeutic pathways for real-world care. A targeted literature search was performed in PubMed, Embase, and Web of Science, focusing on studies addressing cardiovascular involvement in EDMD. Relevant original studies, case series, registries, guideline documents, and high-quality reviews were selected and synthesized narratively, with particular emphasis on diagnostic strategies, risk stratification, and management approaches. Cardiac involvement in EDMD encompasses a broad and heterogeneous spectrum, including atrial disease and conduction disturbances, ventricular arrhythmias, dilated cardiomyopathy, thromboembolic complications, and sudden cardiac death. Phenotypic expression varies according to the underlying genetic substrate, with distinct atrial- and ventricular-dominant trajectories. Early recognition and structured cardiovascular surveillance are essential to guide timely intervention, including anticoagulation, device therapy, and heart failure management. Despite growing awareness, significant gaps remain in risk prediction and standardized management strategies. EDMD represents a paradigmatic model of cardiomyopathy characterized by prominent electrical instability and systemic involvement. A structured, genotype- and phenotype-informed approach centered on early surveillance, proactive arrhythmia and thromboembolic risk management and timely device therapy may improve clinical decision-making in real-world settings. Future perspectives include the integration of precision medicine and the development of gene- and pathway-targeted therapies, with the potential to shift from symptomatic management toward disease-modifying strategies.

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.

Non-bacterial thrombotic endocarditis (NBTE) is a form of non-infective endocarditis characterized by the deposition of sterile fibrin and platelets on cardiac valves. Even though some studies have identified important pathophysiological features, many aspects remain poorly understood. Given its wide availability, transthoracic echocardiography is typically the initial diagnostic approach to the patient. Additionally, recent technological advancements in transesophageal echocardiography, such as three-dimensional and multiplanar reconstruction analysis, have significantly improved diagnostic accuracy over time. By presenting our case series and performing a literature review, we focused on the main pathophysiologic, diagnostic, and therapeutic aspects of this rare but potentially life-threatening disease.