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致心律失常性心肌病:一种疾病还是仅仅一种表型?

Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

作者信息

Protonotarios Alexandros, Elliott Perry M

机构信息

Institute of Cardiovascular Science, University College London, London, UK.

Inherited Cardiovascular Disease Unit, Barts Heart Centre, London, UK.

出版信息

Eur Cardiol. 2020 Feb 26;15:1-5. doi: 10.15420/ecr.2019.05. eCollection 2020 Feb.

DOI:10.15420/ecr.2019.05
PMID:32180838
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7066858/
Abstract

Arrhythmogenic cardiomyopathy (AC) is a clinical entity that has evolved conceptually over the past 30 years. Advances in cardiac imaging and the introduction of genetics into everyday practice have revealed that AC comprises multiple phenotypes that are dependent on genetic or acquired factors. In this study, the authors summarise the approach to the identification of the AC phenotype and its underlying causes. They believe that AC represents a paradigm for personalised medicine in cardiology and that better stratification of the disease will enhance the development of mechanism-based treatments.

摘要

致心律失常性心肌病(AC)是一种在过去30年中概念不断演变的临床实体。心脏成像技术的进步以及遗传学在日常实践中的引入表明,AC包含多种取决于遗传或后天因素的表型。在本研究中,作者总结了识别AC表型及其潜在病因的方法。他们认为AC代表了心脏病学中个性化医疗的范例,对该疾病进行更好的分层将促进基于机制的治疗方法的发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/6db810419581/ecr-15-11-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/8cf4e40ab933/ecr-15-11-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/e93bc8eb8d35/ecr-15-11-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/6db810419581/ecr-15-11-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/8cf4e40ab933/ecr-15-11-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/e93bc8eb8d35/ecr-15-11-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c58/7066858/6db810419581/ecr-15-11-g003.jpg

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Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.致心律失常性右室心肌病的定义与治疗:更新的专家小组报告。
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利用斑马鱼动物模型研究心律失常性心肌病的遗传基础和机制。
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