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一名年轻的缺血性中风患者出现心房停搏，与一种新的HCN4突变遗传有关。

Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation.

作者信息

Anand Abhinav B, Shah Bhavik S, Sabnis Girish R, Mahajan Ajay U

机构信息

Department of Cardiology Seth GS Medical College and KEM Hospital Mumbai India.

出版信息

J Arrhythm. 2024 Sep 20;40(6):1519-1522. doi: 10.1002/joa3.13150. eCollection 2024 Dec.

DOI:10.1002/joa3.13150
PMID:39669928
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11632268/
Abstract

We present a case of HCN4 gene mutation presenting with atrial standstill and stroke in the young.

摘要

我们报告一例年轻患者因HCN4基因突变出现心房静止和中风的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/edc25191c31f/JOA3-40-1519-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/90fed194333e/JOA3-40-1519-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/6ec9565bb17f/JOA3-40-1519-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/811391d9b11c/JOA3-40-1519-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/edc25191c31f/JOA3-40-1519-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/90fed194333e/JOA3-40-1519-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/6ec9565bb17f/JOA3-40-1519-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/811391d9b11c/JOA3-40-1519-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/175f/11632268/edc25191c31f/JOA3-40-1519-g004.jpg

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引用本文的文献

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JACC Case Rep. 2025 May 14;30(10):103873. doi: 10.1016/j.jaccas.2025.103873.

本文引用的文献

1
Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series.携带影响连续三代人的LMNA基因变异的心肌病：病例系列
Intern Med. 2024 Sep 15;63(18):2533-2536. doi: 10.2169/internalmedicine.1701-23. Epub 2024 Mar 4.
2
Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration.儿科人群中的心房静止：一项多机构合作研究。
JACC Clin Electrophysiol. 2023 Jan;9(1):57-69. doi: 10.1016/j.jacep.2022.08.022. Epub 2022 Oct 26.
3
Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an gene mutation.
一名4岁女童因基因突变导致心房静止，出现进行性心房心肌纤维化。
HeartRhythm Case Rep. 2022 Jul 2;8(9):636-638. doi: 10.1016/j.hrcr.2022.06.010. eCollection 2022 Sep.
4
Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.钠离子通道（SCN5A）突变与病态窦房结综合征心脏起搏功能障碍的机制联系。
Circ Res. 2010 Jul 9;107(1):126-37. doi: 10.1161/CIRCRESAHA.110.219949. Epub 2010 May 6.
5
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.先天性心房静止与一种新型SCN5A突变和连接蛋白40多态性的共同遗传相关。
Heart Rhythm. 2005 Oct;2(10):1128-34. doi: 10.1016/j.hrthm.2005.06.032.
6
Clinical and electrophysiological characteristics of atrial standstill.心房静止的临床和电生理特征
Pacing Clin Electrophysiol. 1995 Jun;18(6):1244-54. doi: 10.1111/j.1540-8159.1995.tb06964.x.