揭示儿茶酚胺能多形性室性心动过速：一例2型兰尼碱受体3号外显子缺失酷似1型长QT综合征的病例。 - Suppr

Suppr

超能文献

Unveiling catecholaminergic polymorphic ventricular tachycardia: A case of type 2 ryanodine receptor exon 3 deletion mimicking long QT syndrome type 1.

作者信息

Kuinose Kazuhiko, Toya Takumi, Yamaga Mitsuki, Nagatomo Yuji, Adachi Takeshi, Ikegami Yukinori

机构信息

Division of Cardiology, National Defense Medical College, Tokorozawa, Saitama, Japan.

出版信息

HeartRhythm Case Rep. 2024 Oct 9;11(1):43-46. doi: 10.1016/j.hrcr.2024.10.001. eCollection 2025 Jan.

DOI:10.1016/j.hrcr.2024.10.001

PMID:40330680

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12049716/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b413/12049716/ee3044be5e58/gr1.jpg

相似文献

Unveiling catecholaminergic polymorphic ventricular tachycardia: A case of type 2 ryanodine receptor exon 3 deletion mimicking long QT syndrome type 1.

HeartRhythm Case Rep. 2024 Oct 9;11(1):43-46. doi: 10.1016/j.hrcr.2024.10.001. eCollection 2025 Jan.

Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report.

J Med Case Rep. 2018 Oct 9;12(1):298. doi: 10.1186/s13256-018-1825-6.

Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.

Cardiol Young. 2024 May;34(5):1010-1017. doi: 10.1017/S1047951123003086. Epub 2023 Nov 29.

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1　- Modified Schwartz Score.

Circ J. 2018 Aug 24;82(9):2269-2276. doi: 10.1253/circj.CJ-17-1032. Epub 2018 Jun 21.

GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.

Circ Arrhythm Electrophysiol. 2022 Apr;15(4):e010326. doi: 10.1161/CIRCEP.121.010326. Epub 2022 Mar 31.

Simultaneous Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Gene Mutations.

Cureus. 2021 Nov 1;13(11):e19195. doi: 10.7759/cureus.19195. eCollection 2021 Nov.

Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.

Am J Med Genet A. 2015 Sep;167A(9):2197-200. doi: 10.1002/ajmg.a.37140. Epub 2015 May 27.

Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene.

Heart Vessels. 2017 Feb;32(2):229-233. doi: 10.1007/s00380-016-0869-z. Epub 2016 Jul 11.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.

Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.

Europace. 2022 Mar 2;24(3):497-510. doi: 10.1093/europace/euab250.

本文引用的文献

JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias.

Circ J. 2022 Oct 25;86(11):1790-1924. doi: 10.1253/circj.CJ-20-1212. Epub 2022 Mar 11.

Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5.

J Am Coll Cardiol. 2021 May 25;77(20):2592-2612. doi: 10.1016/j.jacc.2020.12.073.

RYR2 Channel Inhibition Is the Principal Mechanism of Flecainide Action in CPVT.

Circ Res. 2021 Feb 5;128(3):321-331. doi: 10.1161/CIRCRESAHA.120.316819. Epub 2020 Dec 10.

Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R.

Heart Rhythm. 2021 Feb;18(2):250-260. doi: 10.1016/j.hrthm.2020.09.007. Epub 2020 Sep 12.

Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia.

Ann Noninvasive Electrocardiol. 2019 May;24(3):e12623. doi: 10.1111/anec.12623. Epub 2019 Jan 7.

Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with β1-selective β-blockers in patients with catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm. 2016 Feb;13(2):433-40. doi: 10.1016/j.hrthm.2015.09.029. Epub 2015 Sep 30.

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.

Europace. 2014 Nov;16(11):1646-54. doi: 10.1093/europace/eut382. Epub 2014 Jan 6.

Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol.

J Am Coll Cardiol. 2012 Nov 13;60(20):2092-9. doi: 10.1016/j.jacc.2012.07.046. Epub 2012 Oct 17.

Long-QT syndrome: from genetics to management.

Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):868-77. doi: 10.1161/CIRCEP.111.962019.

Carvedilol and its new analogs suppress arrhythmogenic store overload-induced Ca2+ release.

Nat Med. 2011 Jul 10;17(8):1003-9. doi: 10.1038/nm.2406.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验