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A medley of malignant arrhythmias-Supraventricular and ventricular arrhythmias associated with a pathogenic variant.

作者信息

Goggins Ann, Temple Joel, Choi Nak Hyun

机构信息

Nemours Children's Hospital, Wilmington, Delaware.

Children's National Hospital, Washington, DC.

出版信息

HeartRhythm Case Rep. 2025 Mar 20;11(6):547-550. doi: 10.1016/j.hrcr.2025.03.014. eCollection 2025 Jun.

DOI:10.1016/j.hrcr.2025.03.014
PMID:40557381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12184826/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/e7920a202aee/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/4a7a81a8e352/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/a294893922aa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/e7920a202aee/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/4a7a81a8e352/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/a294893922aa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd70/12184826/e7920a202aee/gr3.jpg

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本文引用的文献

1
Novel variants in leading to catecholaminergic polymorphic ventricular tachycardia.导致儿茶酚胺多形性室性心动过速的新型变异。
Life Sci Alliance. 2024 May 22;7(8). doi: 10.26508/lsa.202402572. Print 2024 Aug.
2
Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: A Translational Perspective for the Clinician-Scientist.儿科儿茶酚胺多形性室性心动过速:临床科学家的转化视角。
Int J Mol Sci. 2021 Aug 27;22(17):9293. doi: 10.3390/ijms22179293.
3
Life-threatening arrhythmias with autosomal recessive TECRL variants.常染色体隐性 TECRL 变异相关危及生命的心律失常。
Europace. 2021 May 21;23(5):781-788. doi: 10.1093/europace/euaa376.
4
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.TECRL 中的新型变异导致隐性遗传性 CPVT 型 3,其临床表现严重且多变。
J Cardiovasc Electrophysiol. 2020 Jun;31(6):1527-1535. doi: 10.1111/jce.14446. Epub 2020 Mar 22.
5
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.在一个儿茶酚胺能多形性室性心动过速家族中证实了Tecrl基因的复合杂合性。
Eur J Med Genet. 2019 Jul;62(7):103631. doi: 10.1016/j.ejmg.2019.01.018. Epub 2019 Feb 18.
6
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.儿茶酚胺多形性室性心动过速的临床和遗传谱:来自国际多中心注册研究的结果。
Europace. 2018 Mar 1;20(3):541-547. doi: 10.1093/europace/euw389.
7
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.TECRL,一种新的与长QT综合征(LQTS)和儿茶酚胺能多形性室性心动过速(CPVT)重叠临床特征相关的危及生命的遗传性心律失常基因。
EMBO Mol Med. 2016 Dec 1;8(12):1390-1408. doi: 10.15252/emmm.201505719. Print 2016 Dec.
8
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia.儿茶酚胺多形性室性心动过速的诊断和治疗指南。
Heart Lung Circ. 2012 Feb;21(2):96-100. doi: 10.1016/j.hlc.2011.10.008. Epub 2011 Nov 25.