Sorella Anna, Galanti Kristian, Iezzi Lorena, Gallina Sabina, Mohammed Selma F, Sekhri Neha, Akhtar Mohammed Majid, Prasad Sanjay K, Chahal Choudhary Anwar Ahmed, Ricci Fabrizio, Khanji Mohammed Yunus
Department of Neuroscience, Imaging and Clinical Sciences, G. D'Annunzio University of Chieti-Pescara, 66100 Chieti, Italy.
University Cardiology Division, Heart Department, SS. Annunziata Polyclinic, Chieti 66100, Italy.
Eur Heart J Qual Care Clin Outcomes. 2025 Mar 3;11(2):206-222. doi: 10.1093/ehjqcco/qcae109.
Dilated cardiomyopathy (DCM) is extensively discussed in numerous expert consensus documents and international guidelines, with differing recommendations. To support clinicians in daily practice and decision-making, we conducted a systematic review of key guidelines and recommendations concerning the diagnosis and clinical management of DCM. Our research encompassed MEDLINE and EMBASE databases for relevant articles published, as well as the websites of relevant scientific societies. We identified two guidelines and one scientific statement that met stringent criteria, thereby qualifying them for detailed systematic analysis. Our review revealed consensus on several key aspects: the definition of DCM, the use of B-type natriuretic peptides and high-sensitivity troponin in laboratory testing, the essential role of multimodality cardiovascular imaging for initial diagnosis, genetic counselling, and the management of advanced disease. Nonetheless, notable areas of variation included the formation of multidisciplinary management teams, the role of cascade genetic testing, pathways for arrhythmic risk stratification, and the criteria for prophylactic defibrillator implantation. Significant evidence gaps persist, particularly regarding the clinical trajectory of genetic, non-genetic and gene-elusive forms of DCM, the use of cardiovascular magnetic resonance in phenotype-negative family members with genotype-positive probands, and the development of potential aetiology-oriented therapies. Addressing these gaps could enhance clinical outcomes and inform future research directions and guideline development.
扩张型心肌病（DCM）在众多专家共识文件和国际指南中都有广泛讨论，但建议各不相同。为了在日常实践和决策中为临床医生提供支持，我们对有关DCM诊断和临床管理的关键指南及建议进行了系统评价。我们的研究涵盖了MEDLINE和EMBASE数据库中发表的相关文章，以及相关科学协会的网站。我们确定了两项符合严格标准的指南和一项科学声明，因此有资格对其进行详细的系统分析。我们的评价揭示了在几个关键方面的共识：DCM的定义、实验室检测中B型利钠肽和高敏肌钙蛋白的使用、多模态心血管成像在初始诊断、遗传咨询和晚期疾病管理中的重要作用。尽管如此，显著的差异领域包括多学科管理团队的组建、级联基因检测的作用、心律失常风险分层途径以及预防性植入除颤器的标准。仍然存在重大的证据空白，特别是关于遗传性、非遗传性和基因不明形式的DCM的临床病程、心血管磁共振在基因型阳性先证者的表型阴性家庭成员中的应用，以及潜在病因导向治疗的发展。填补这些空白可以改善临床结果，并为未来的研究方向和指南制定提供参考。
