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遗传性心肌病的流行病学与临床特征

Epidemiology and Clinical Aspects of Genetic Cardiomyopathies.

作者信息

Masarone Daniele, Kaski Juan Pablo, Pacileo Giuseppe, Elliott Perry M, Bossone Eduardo, Day Sharlene M, Limongelli Giuseppe

机构信息

Cardiomyopathies and Heart Failure Unit, Monaldi Hospital, Via Leonardo Bianchi, Naples 84100, Italy.

Department of Cardiology, Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; Department of Cardiology, UCL Institute of Cardiovascular Science, Gower Street, London WC1E 6BT, UK.

出版信息

Heart Fail Clin. 2018 Apr;14(2):119-128. doi: 10.1016/j.hfc.2017.12.007.

DOI:10.1016/j.hfc.2017.12.007
PMID:29525641
Abstract

Cardiomyopathies (CMPs) are an increasingly recognized cause of heart failure and sudden death, particularly in young patients. Since their original description, major advances were achieved in the phenotype knowledge, natural history, and nosography of CMPs leading to different classification systems and therapies. However, a deeper knowledge of different causes, genotype-phenotype link, and natural history in different disease stages (preclinical, overt disease, and end-stage disease) according to a recognized standard of care (ie, international guidelines) is needed. Clinical registries can fill gaps in our knowledge regarding the uncovered issues on cause, clinical course, and management of CMPs.

摘要

心肌病(CMPs)是导致心力衰竭和猝死的一个日益被认识到的原因,尤其是在年轻患者中。自最初被描述以来,在心肌病的表型知识、自然史和疾病分类学方面取得了重大进展,从而产生了不同的分类系统和治疗方法。然而,需要根据公认的治疗标准(即国际指南),更深入地了解不同病因、基因型-表型联系以及不同疾病阶段(临床前期、显性疾病和终末期疾病)的自然史。临床登记可以填补我们在心肌病病因、临床病程和管理方面未发现问题的知识空白。

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