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新型LMNA突变所致扩张型心肌病：一例报告

Dilated cardiomyopathy due to novel LMNA mutation: a case report.

作者信息

Patel Riddhi, Patel Raj, Patel Ekta, Patel Mehul

机构信息

Lake Erie College of Osteopathic Medicine, Erie, PA, United States.

Lake Erie College of Osteopathic Medicine, Greensburg, PA, United States.

出版信息

Front Cardiovasc Med. 2024 Oct 1;11:1422151. doi: 10.3389/fcvm.2024.1422151. eCollection 2024.

DOI:10.3389/fcvm.2024.1422151
PMID:39411178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11473315/
Abstract

A case of a 44-year-old man presenting with a family history of LMNA mutation and cardiac symptoms (dizziness, weakness, palpitations, and shortness of breath) congruent with dilated cardiomyopathy. Genetic testing revealed a novel likely pathogenic mutation of the LMNA gene (c.513G>A, exon 2) not previously associated with dilated cardiomyopathy, and the patient underwent guideline direct treatment for dilated cardiomyopathy. In patients with LMNA mutations, VTA risk should be calculated to determine the need for prophylactic ICD placement.

摘要

一名44岁男性患者，有LMNA基因突变家族史，且出现与扩张型心肌病相符的心脏症状（头晕、乏力、心悸和气短）。基因检测发现LMNA基因有一个新的可能致病突变（c.513G>A，外显子2），此前未发现该突变与扩张型心肌病相关，该患者接受了扩张型心肌病的指南指导治疗。对于有LMNA基因突变的患者，应计算心室性心动过速风险以确定是否需要预防性植入植入式心脏复律除颤器（ICD）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d40d/11473315/dad3ffee6022/fcvm-11-1422151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d40d/11473315/44ac87cd1f8f/fcvm-11-1422151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d40d/11473315/dad3ffee6022/fcvm-11-1422151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d40d/11473315/44ac87cd1f8f/fcvm-11-1422151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d40d/11473315/dad3ffee6022/fcvm-11-1422151-g002.jpg

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本文引用的文献

1
Maintaining Success for Patients With Dilated Cardiomyopathy and Remission of Heart Failure.维持扩张型心肌病患者的成功治疗及心力衰竭的缓解
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Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.
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