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单因素和多因素心肌病中的基因及其多态性:迈向心力衰竭的药物基因组学

Genes and their polymorphisms in mono- and multifactorial cardiomyopathies: towards pharmacogenomics in heart failure.

作者信息

Charron Philippe, Komajda Michel

机构信息

Department of Cardiology and Genetics Laboratory, Association Claude Bernard, Université Paris VI, Hôpital Pitié-Salpêtrière, Paris, France.

出版信息

Pharmacogenomics. 2002 May;3(3):367-78. doi: 10.1517/14622416.3.3.367.

Abstract

Cardiomyopathies are diseases of the myocardium associated with cardiac dysfunction, and are classified as dilated cardiomyopathy (DCM), hypertropic cardiomyopathy (HCM) and restrictive cardiomyopathy. Heart failure and sudden death are the two major complications. Also, since DCM is the primary indication for heart transplantation and HCM the primary cause of sudden death in young athletes, the socioeconomic impact of these diseases is important. Recently, the role of the genetic background in both monogenic and multifactorial cardiomyopathies has been studied, which has led to a better understanding of the underlying mechanisms that promote the development and progression of these diseases. Preliminary data suggest interactions between pharmacological treatment and genetic polymorphisms, which appear to be the first steps towards the application of pharmacogenetics in heart failure.

摘要

心肌病是与心脏功能障碍相关的心肌疾病,分为扩张型心肌病(DCM)、肥厚型心肌病(HCM)和限制型心肌病。心力衰竭和猝死是两大主要并发症。此外,由于DCM是心脏移植的主要指征,HCM是年轻运动员猝死的主要原因,这些疾病的社会经济影响重大。最近,人们对单基因和多因素心肌病的遗传背景作用进行了研究,这使人们对促进这些疾病发生和发展的潜在机制有了更好的理解。初步数据表明药物治疗与基因多态性之间存在相互作用,这似乎是在心力衰竭中应用药物遗传学的第一步。

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