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病例系列：与LMNA相关的扩张型心肌病表现为节段性室壁运动减弱和透壁性延迟钆增强。

Case series: LMNA-related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement.

作者信息

Wang Shuai, Peng Daoquan

机构信息

Department of Cardiovascular Medicine, Second Xiangya Hospital of Central South University, 139 Renmin Middle Road, Changsha, Hunan, 410011, China.

出版信息

ESC Heart Fail. 2020 Oct;7(5):3179-3183. doi: 10.1002/ehf2.12822. Epub 2020 Jul 14.

DOI:10.1002/ehf2.12822
PMID:32666643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7524123/
Abstract

Patients with LMNA mutation-related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias, and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. Here, we presented three unrelated cases with LMNA mutation exhibited unusual cardiac phenotype of marked LV dilation, significant reduced ejection fraction with reginal wall akinesis, and transmural enhancement with a predilection of lateral wall on cardiovascular magnetic resonance (CMR). These three patients were found to have confirmed pathological LMNA mutations (c.1621C > T, p.R541C and c.1621G > A, p.R541H) at the same location (p.R541) in the tail region of lamin A/C.

摘要

患有LMNA突变相关心脏病的患者表现为传导异常、室性快速性心律失常，以及收缩功能轻度受损时心脏性猝死风险高，通常无腔室扩张。在此，我们报告了3例无关病例，其LMNA突变表现出不寻常的心脏表型，即左心室明显扩张、射血分数显著降低伴节段性室壁运动消失，以及心血管磁共振（CMR）显示透壁强化且以侧壁为主。这3例患者被发现在核纤层蛋白A/C尾部区域的相同位置（p.R541）存在经证实的病理性LMNA突变（c.1621C>T，p.R541C和c.1621G>A，p.R541H）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f44/7524123/9683c56bd58a/EHF2-7-3179-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f44/7524123/9683c56bd58a/EHF2-7-3179-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f44/7524123/9683c56bd58a/EHF2-7-3179-g001.jpg

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