Domenico D'Amario, Alessandra Arcudi, Maria Lucia Narducci, Valeria Novelli, Francesco Canonico, Alessandro Parodi, Gabriele Dell'Era, Marco Di Francesco, Renzo Laborante, Josip Andelo Borovac, Mattia Galli, Eugenio Maria Mercuri, Giuseppe Vergaro, Antonio Dello Russo, Anthea Tonia D'Amico, Antonio Bisignani, Rachele Adorisio, Giulio Pompilio, Giuseppe Patti
{"title":"Arrhythmic Risk Stratification and Sudden Cardiac Death Prevention in Duchenne Muscular Dystrophy: A Critical Appraisal.","authors":"Domenico D'Amario, Alessandra Arcudi, Maria Lucia Narducci, Valeria Novelli, Francesco Canonico, Alessandro Parodi, Gabriele Dell'Era, Marco Di Francesco, Renzo Laborante, Josip Andelo Borovac, Mattia Galli, Eugenio Maria Mercuri, Giuseppe Vergaro, Antonio Dello Russo, Anthea Tonia D'Amico, Antonio Bisignani, Rachele Adorisio, Giulio Pompilio, Giuseppe Patti","doi":"10.31083/RCM27089","DOIUrl":null,"url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a genetic progressive neuromuscular disorder characterized by early-onset proximal muscle weakness and significant long-term pulmonary and cardiac involvement. Due to the early pharmacological treatments and the wider adoption of non-invasive ventilation, life expectancy has significantly increased in recent years, highlighting the relevance of DMD-related cardiomyopathy and fatal arrhythmias, especially in the late stage of the disease. Current guideline-derived evaluation of sudden cardiac death (SCD) in DMD lacks accuracy, leading to inadequate arrhythmic risk stratification and jeopardized SCD prevention strategies. This review aims to outline these critical issues, proposing an integrative approach encompassing manifold tools such as an imaging-derived systematic and comprehensive evaluation (speckle-tracking echocardiography and magnetic resonance imaging), the electrophysiological study, the 3-dimensional electroanatomic mapping, and a multidimensional clinical examination. This approach might lead to more personalized management along with an effective arrhythmia-prevention strategy aiming to balance clinical care goals, patient expectations, and ethical considerations.</p>","PeriodicalId":20989,"journal":{"name":"Reviews in cardiovascular medicine","volume":"26 3","pages":"27089"},"PeriodicalIF":1.9000,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11951492/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reviews in cardiovascular medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.31083/RCM27089","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
Duchenne muscular dystrophy (DMD) is a genetic progressive neuromuscular disorder characterized by early-onset proximal muscle weakness and significant long-term pulmonary and cardiac involvement. Due to the early pharmacological treatments and the wider adoption of non-invasive ventilation, life expectancy has significantly increased in recent years, highlighting the relevance of DMD-related cardiomyopathy and fatal arrhythmias, especially in the late stage of the disease. Current guideline-derived evaluation of sudden cardiac death (SCD) in DMD lacks accuracy, leading to inadequate arrhythmic risk stratification and jeopardized SCD prevention strategies. This review aims to outline these critical issues, proposing an integrative approach encompassing manifold tools such as an imaging-derived systematic and comprehensive evaluation (speckle-tracking echocardiography and magnetic resonance imaging), the electrophysiological study, the 3-dimensional electroanatomic mapping, and a multidimensional clinical examination. This approach might lead to more personalized management along with an effective arrhythmia-prevention strategy aiming to balance clinical care goals, patient expectations, and ethical considerations.
期刊介绍:
RCM is an international, peer-reviewed, open access journal. RCM publishes research articles, review papers and short communications on cardiovascular medicine as well as research on cardiovascular disease. We aim to provide a forum for publishing papers which explore the pathogenesis and promote the progression of cardiac and vascular diseases. We also seek to establish an interdisciplinary platform, focusing on translational issues, to facilitate the advancement of research, clinical treatment and diagnostic procedures. Heart surgery, cardiovascular imaging, risk factors and various clinical cardiac & vascular research will be considered.