核纤层蛋白心肌病的发病机制及诊治要点

田庄; 芦阳

doi:10.13201/j.issn.1001-1439.2023.02.002

核纤层蛋白心肌病的发病机制及诊治要点

田庄^1, ,,
芦阳²

- 1.
  中国医学科学院北京协和医院国际医疗部心内科(北京，100730)
- 2.
  中国医学科学院北京协和医院内科
基金项目:
中央高水平医院临床科研业务费(No：2022-PUMCH-B-098)

详细信息

通讯作者: 田庄, E-mail: tianzhuangcn@sina.com

中图分类号: R542.2

收稿日期: 2022-12-22

刊出日期: 2023-02-13

Pathogenesis, diagnosis, and treatment of laminin cardiomyopathy

TIAN Zhuang^1, ,,
LU Yang²

- 1.
  Department of International Medical Service and Cardiology
- 2.
  Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China

More Information

Corresponding author: TIAN Zhuang, E-mail: tianzhuangcn@sina.com

Received Date: 22 December 2022

Publish Date: 13 February 2023

摘要

摘要: 核纤层蛋白A/C位于核膜上。编码核纤层蛋白A/C的基因(LMNA)发生突变可通过一系列机制导致机体产生各种疾病，这一系列疾病统称为核纤层蛋白病，扩张型心肌病(dilated cardiomyopathy，DCM)便是其中之一。本文将介绍LMNA-DCM的发病率、病理生理机制、临床表型和治疗。
- 核纤层蛋白病 /
- 扩张型心肌病 /
- 房室传导阻滞 /
- 心律失常
Abstract: Lamin A/C is located on the nuclear membrane. Mutations in the gene coding for laminin A/C(LMNA) can lead to a variety of diseases, which is named laminopathy, through a series of mechanisms. Dilated cardiomyopathy(DCM) is one of them. This paper will introduce the incidence and prevalence, pathophysiological mechanism, clinical phenotype, and treatment of LMNA-DCM.
- laminopathy /
- dilated cardiomyopathy /
- atrioventricular block /
- arrhythmia

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参考文献(21)

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