Evidence map›Paper›PMID 39394151›Full record

ArticleBMC medical genomics2024

Torsades de Pointes electrical storm in children with KCNH2 mutations.

Li Zhang, Meng Xu, Zhen Yan, Yan Han, Xunwei Jiang, Tingting Xiao, Cuilan Hou, Yun Li

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Li Zhang *Department of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Meng Xu *Department of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Zhen YanDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Yan HanDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Xunwei JiangDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Tingting XiaoDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
Cuilan HouDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China. houcl88@sina.cn.
Yun LiDepartment of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China. liyun@shchildren.com.cn.

Funding

National Natural Science Foundation of China 81900437Shanghai Children's hospital 2019YQ06Shanghai Jiao Tong University medical technology crossing project YG2021ZD26
6 · The paper itself

Abstract

Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP) cardiac electrical storm (ES). Through whole exome sequencing (WES), we identified two Potassium voltage-gated channel subfamily H member 2 (KCHN2) mutations (c.1841 C > T and c.1838 C > T) respectively in a 6-year-old boy and a 13-year-old girl. Clinical data indicated that the QT interval was significantly prolonged, the T-wave pattern of chest V5-V6 leads and limb leads were inverted. Our study suggests that patients with epilepsy, especially those refractory epilepsy with atypical features, need comprehensive evaluation of cardiovascular function. KCNH2 mutation in pore region, QT interval prolongation and T wave inversion are high risk factors for ES. For LQT2 patients with ES, Nadolol and left cardiac sympathetic denervation are indicated, sometimes with an ICD.

Indexed as

ERG1 Potassium ChannelMutationTorsades de PointesAdolescentChildElectrocardiographyExome SequencingFemaleHumansLong QT SyndromeMaleERG1 Potassium ChannelKCNH2 protein, humanCongenital long QT syndromeElectrical stormKCHN2QT intervalT wave morphology

Identifiers

PMID39394151
PMCPMC11468024

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