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Clockwise bundle branch re-entrant ventricular tachycardia in a teenage patient as the first manifestation of dilated cardiomyopathy associated with the p.Ile512Leu TNNI3k variant: a case report.一名青少年患者出现顺时针束支折返性室性心动过速，为与p.Ile512Leu TNNI3k变异相关的扩张型心肌病的首发表现：病例报告
Eur Heart J Case Rep. 2025 Aug 8;9(9):ytaf392. doi: 10.1093/ehjcr/ytaf392. eCollection 2025 Sep.
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Whole-Exome Sequencing Identifies a Novel Variant (c.1538T > C) of in Arrhythmogenic Right Ventricular Cardiomyopathy.全外显子组测序鉴定出致心律失常性右室心肌病中一种新的（c.1538T > C）变异。
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The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.POPDC蛋白在心脏起搏和传导中的作用。
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The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment.TNNI3K 在心脏疾病中的多种作用及治疗潜力。
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A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.一种与短联扭转型室速相关的 SPRY1 结构域心肌兰尼碱受体变异体。
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本文引用的文献

1
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.家族性传导系统疾病、房性快速心律失常和扩张型心肌病综合征中的TNNI3K突变
Hum Mol Genet. 2014 Nov 1;23(21):5793-804. doi: 10.1093/hmg/ddu297. Epub 2014 Jun 11.
2
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.核黄素转运蛋白的突变在儿童期表现为严重的感觉丧失和耳聋。
Muscle Nerve. 2014 Nov;50(5):775-9. doi: 10.1002/mus.24224. Epub 2014 Sep 16.
3
Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction.解析 PR 间期持续时间的数量性状位点，鉴定 Tnni3k 为心脏传导的新型调节剂。
PLoS Genet. 2012;8(12):e1003113. doi: 10.1371/journal.pgen.1003113. Epub 2012 Dec 6.
4
Controlling the activity of the Tec kinase Itk by mutation of the phenylalanine gatekeeper residue.通过突变苯丙氨酸把关残基来控制 Tec 激酶 Itk 的活性。
Biochemistry. 2011 Jan 18;50(2):221-9. doi: 10.1021/bi101379m. Epub 2010 Dec 16.
5
Tnni3k modifies disease progression in murine models of cardiomyopathy.Tnni3k 可改变心肌病小鼠模型中的疾病进展。
PLoS Genet. 2009 Sep;5(9):e1000647. doi: 10.1371/journal.pgen.1000647. Epub 2009 Sep 18.
6
Activation of tyrosine kinases by mutation of the gatekeeper threonine.通过守门苏氨酸突变激活酪氨酸激酶。
Nat Struct Mol Biol. 2008 Oct;15(10):1109-18. doi: 10.1038/nsmb.1486. Epub 2008 Sep 14.
7
Junctional ectopic tachycardia evolving into complete heart block.交界性异位性心动过速演变为完全性心脏传导阻滞。
Heart. 1998 Dec;80(6):627-8. doi: 10.1136/hrt.80.6.627.
8
Conversion of SB 203580-insensitive MAP kinase family members to drug-sensitive forms by a single amino-acid substitution.通过单个氨基酸取代将对SB 203580不敏感的丝裂原活化蛋白激酶家族成员转化为对药物敏感的形式。
Chem Biol. 1998 Jun;5(6):321-8. doi: 10.1016/s1074-5521(98)90170-3.
9
Evolving concepts in the management of congenital junctional ectopic tachycardia. A multicenter study.先天性交界性异位性心动过速治疗理念的演变。一项多中心研究。
Circulation. 1990 May;81(5):1544-9. doi: 10.1161/01.cir.81.5.1544.

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

作者信息

Xi Yanwei, Honeywell Christina, Zhang Dapeng, Schwartzentruber Jeremy, Beaulieu Chandree L, Tetreault Martine, Hartley Taila, Marton Jennifer, Vidal Silvia M, Majewski Jacek, Aravind L, Gollob Michael, Boycott Kym M, Gow Robert M

机构信息

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

出版信息

Int J Cardiol. 2015 Apr 15;185:114-6. doi: 10.1016/j.ijcard.2015.03.130. Epub 2015 Mar 11.

DOI:10.1016/j.ijcard.2015.03.130
PMID:25791106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5938092/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8a5/5938092/f7622fde125f/nihms962727f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8a5/5938092/5e11506aa314/nihms962727f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8a5/5938092/f7622fde125f/nihms962727f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8a5/5938092/5e11506aa314/nihms962727f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8a5/5938092/f7622fde125f/nihms962727f2.jpg