Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 S. Euclid Ave., Campus Box 8086, St. Louis, MO, 63110, USA.
Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, 660 S. Euclid Ave., Campus Box 8231, St. Louis, MO, 63110, USA.
Heart Fail Rev. 2021 Mar;26(2):405-415. doi: 10.1007/s10741-020-10021-5. Epub 2020 Sep 3.
Dilated cardiomyopathy (DCM) is a major cause of heart failure and cardiovascular mortality. In the past 20 years, there has been an overwhelming focus on developing therapeutics that target common downstream disease pathways thought to be involved in all forms of heart failure independent of the initial etiology. While this strategy is effective at the population level, individual responses vary tremendously and only approximately one third of patients receive benefit from modern heart failure treatments. In this perspective, we propose that DCM should be considered as a collection of diseases with a common phenotype of left ventricular dilation and systolic dysfunction rather than a single disease entity, and that mechanism-based classification of disease subtypes will revolutionize our understanding and clinical approach towards DCM. We discuss how these efforts are central to realizing the potential of precision medicine and how they are empowered by the development of new tools that allow investigators to strategically employ genomic and transcriptomic information. Finally, we outline an investigational strategy to (1) define DCM at the patient level, (2) develop new tools to model and mechanistically dissect subtypes of human heart failure, and (3) harness these insights for the development of precision therapeutics.
扩张型心肌病(DCM)是心力衰竭和心血管死亡率的主要原因。在过去的 20 年中,人们将大量的精力集中在开发针对共同下游疾病途径的治疗方法上,这些途径被认为与心力衰竭的所有形式有关,而与初始病因无关。虽然这种策略在人群水平上是有效的,但个体反应差异很大,只有大约三分之一的心力衰竭患者从现代心力衰竭治疗中受益。从这个角度来看,我们提出 DCM 应该被认为是一种具有共同表型的疾病集合,即左心室扩张和收缩功能障碍,而不是单一的疾病实体,并且基于机制的疾病亚型分类将彻底改变我们对 DCM 的理解和临床方法。我们讨论了这些努力如何是实现精准医学潜力的核心,以及它们如何通过开发允许研究人员战略性地利用基因组和转录组信息的新工具而获得支持。最后,我们概述了一种研究策略,旨在(1)在患者层面定义 DCM,(2)开发新工具来模拟和从机制上剖析人类心力衰竭的亚型,以及(3)利用这些见解开发精准治疗方法。