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扩张型心肌病——探寻潜在病因

Dilated Cardiomyopathy - Exploring the Underlying Causes.

作者信息

Wieczorek David F

机构信息

Department of Molecular and Cellular Biosciences, University of Cincinnati College of Medicine, 231 Albert Sabin Way.

出版信息

Med Res Arch. 2024 Dec;12(12). doi: 10.18103/mra.v12i12.6111. Epub 2024 Dec 24.

DOI:10.18103/mra.v12i12.6111
PMID:40896710
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12393173/
Abstract

Cardiovascular disease is one of the world's leading causes of natural mortality, taking approximately 18 million lives each year. Dilated cardiomyopathy, a subgroup of cardiac diseases, has an annual incidence of 5 - 8 cases per 100,000 for European and North American populations. Common features of dilated cardiomyopathy include cardiac chamber enlargement, impaired systolic function, reduced ejection fraction, and arrhythmias, with an endpoint of ventricular dilation and heart failure. The focus of this paper is to review the non-genetic and genetic etiologies that lead to dilated cardiomyopathy. The non-genetic causes of dilated cardiomyopathy that are discussed include viruses, cardiotoxicity, recreational drugs, and chemotherapeutic medications. For the genes that lead to dilated cardiomyopathy, the focus of this paper is on cytoskeletal and sarcomeric protein genes. Our scope in defining this area will be to explore numerous mouse models that incorporate mutations found in humans that lead to dilated cardiomyopathy. The purpose of the paper is to define the morphological and physiological consequences of these mutations and how this information has furthered our understanding of the disease. Having gained invaluable knowledge from these animal models, it is hoped that new and improved therapeutic approaches can be developed for the treatment and prevention of dilated cardiomyopathy.

摘要

心血管疾病是全球自然死亡率的主要原因之一,每年夺走约1800万人的生命。扩张型心肌病是心脏病的一个亚组,欧洲和北美人群的年发病率为每10万人5 - 8例。扩张型心肌病的常见特征包括心腔扩大、收缩功能受损、射血分数降低和心律失常,最终导致心室扩张和心力衰竭。本文的重点是综述导致扩张型心肌病的非遗传和遗传病因。文中讨论的扩张型心肌病的非遗传病因包括病毒、心脏毒性、消遣性药物和化疗药物。对于导致扩张型心肌病的基因,本文重点关注细胞骨架和肌节蛋白基因。我们在界定这一领域时的范围将是探索众多包含人类中发现的导致扩张型心肌病的突变的小鼠模型。本文的目的是确定这些突变的形态学和生理学后果,以及这些信息如何增进了我们对该疾病的理解。从这些动物模型中获得了宝贵的知识,希望能够开发出新的和改进的治疗方法来治疗和预防扩张型心肌病。