Long QT syndrome masquerading as epilepsy

Galtrey, Clare; Levee, Viva; Arevalo, Jan; Wren, Damian

doi:10.1136/practneurol-2018-001959

Cited by 13 publications

(9 citation statements)

References 9 publications

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“…The relationship between epilepsy and LQTS is complicated. Seizures can lead to QT prolongation [11][12][13], while LQTS can induce epileptic seizures; the two diseases can even be present together [14,15]. Verrier et al even proposed the concept of "epileptic heart", suggesting that recurrent seizures could lead to repeated surges of plasma catecholamines and hypoxemia that lead to electrical and mechanical dysfunction of cardiac cells.…”

Section: Discussionmentioning

confidence: 99%

“…Among them, TdP and ventricular fibrillation are key pointers to immediate drug withdrawal, and they are also the main causes of death. diLQTS caused by ASMs should be alerted, and ASMs should be stopped immediately upon the co-occurrence of TdP and ventricular fibrillation [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. The risk of Tdp can be increased in the cases of prolonged QTc, t-U wave malformation and T wave electric alternation.…”

Section: Discussionmentioning

confidence: 99%

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Case report of antiseizure medicine-induced long QT syndrome and a literature review

Zha

et al. 2022

Acta Epileptologica

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Background To realize the clinical characteristics of long QT syndrome (LQTS) caused by antiseizure medicines (ASMs), and to improve the prevention and management of ASM-acquired QT syndrome. Case presentation A case of ASM-acquired QT syndrome was diagnosed and relevant literature was reviewed. The case was a 7-year-old boy who presented with a sudden onset of panic followed by changes in consciousness, with or without convulsions, lasting from tens of seconds to 3 min. The patient then received antiepileptic treatment with valproic acid, levetiracetam and oxcarbazepine and was seizure free for about a year. However, on August 12, 2021, his illness flared up again. Electroencephalogram (EEG) showed the background activity was slow, and no obvious epileptic discharge was detected. But electrocardiogram (ECG) showed a surprisingly prolonged QT interval (770 ms). Torsades de Pointes was found during Holter monitoring, while electrolyte levels were normal. The ECG recordings gradually returned to normal after stopping ASMs. For literature search, only 21 related papers were obtained after reading titles and full-texts of 105 English-language papers retrieved using keywords "acquired QT interstitial syndrome/acquired Long QT Syndrome (aLQTS)" and "anti-epileptic seizure drugs/ASMs", in the databases of Wanfang, CNKI, Pubmed, and other databases, from publication year 1965 to October 26, 2021. There are 12 types of drug-acquired LQTS caused by ASMs, most of which are Na+ blockers, but LQTS caused by oxcarbazepine had not been reported previously. Conclusions ASMs such as oxcarbazepine can cause acquired LQTS. When Na+ or K+ channel blockers are used clinically, ECG should be reviewed regularly and abnormal ECG should be intervened in time to reduce iatrogenic accidents in patients with epilepsy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Case report of antiseizure medicine-induced long QT syndrome and a literature review

Zha

et al. 2022

Acta Epileptologica

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“…In addition, the pathogenicity data of the variants in the three genes were mostly related to arrhythmia, which indicated that little is known about the pathogenicity of these variants in epilepsy. On the other hand, there is also an unneglectable chance of LQTS being misdiagnosed as epilepsy because LQTS‐related symptoms can often be attributed to alternative diagnoses, most commonly seizure disorders, as shown in a systematic retrospective review of 31 LQTS patients (MacCormick et al., ) and some other case reports (Galtrey, Levee, Arevalo, & Wren, ; Gatto, Fernandez Pardal, Micheli, Gonzalez, & Daru, ; Gatto, Zurru, & Gonzalez, ; Goyal, Sethi, & Shah, ). This kind of misdiagnosis could also be one explanation for the relatively high proportion of variant‐positive patients in the studied epilepsy cohort.…”

Section: Discussionmentioning

confidence: 99%

Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing

Liu

Bai

2019

Annals of Human Genetics

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KCNQ1, KCNH2, and SCN5A are the most common genes responsible for long QT syndrome and Brugada syndrome. However, the genetic variant frequencies of the three genes in different Chinese disease cohorts are largely unknown. In this study, we analyzed the genetic variants of KCNQ1, KCNH2, and SCN5A in patients from seven cohorts (total N = 11945, including patients clinically suspected to have inherited arrhythmia [n = 122], other cardiovascular diseases [n = 1045], epilepsy [n = 4797], or other diseases [n = 5841], and healthy controls [n = 140]) who had undergone genetic testing. All of these variants were identified via genetic testing by two Chinese companies using the Hi-Seq 2000 platform. A total of 1018 variants (minor allele frequency <0.01) were identified, with 186 (18%), 374 (37%), and 458 (46%) variants in the coding exons of KCNQ1, KCNH2, and SCN5A, respectively. Of these variants, 84% had unknown or uncertain clinical significance. The frequency of identified Clin-Var pathological/likely pathological variants was higher for KCNQ1 (13/186, 7.0%)than for KCNH2 (6/374, 1.6%) or SCN5A (10/458, 2.2%), and KCNH2 held the highest number and proportion of radical mutations (30/374, 8%). The prevalence of variants was highest in the inherited arrhythmia cohort (35%) and lowest in the healthy controls (<4%), as expected. Noticeably, the variant prevalence was relatively high in the epilepsy cohort (27%). Finally, only 22 of the 82 variants (26%) identified by both companies had consistent interpretations of pathogenicity between the two companies. Our study demonstrated a comprehensive spectrum of variants in KCNQ1, KCNH2, and SCN5A in a large number of Chinese individuals, including inherited arrhythmia, cardiovascular diseases, and epilepsy. The detailed variant frequency data of each cohort could serve as a valuable reference to facilitate further variant classification by others. We also found that the interpretations of pathogenicity differed greatly among the companies.

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“…This may also assist in the management of some cardiac arrhythmias that can mimic epilepsy, such as long QT syndrome. 13 In the absence of joint clinics, physicians need to communicate more closely about these patients.…”

Section: Management Challengesmentioning

confidence: 99%

Untitled

2019

J R Coll Physicians Edinb

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Long QT syndrome masquerading as epilepsy

Cited by 13 publications

References 9 publications

Case report of antiseizure medicine-induced long QT syndrome and a literature review

Case report of antiseizure medicine-induced long QT syndrome and a literature review

Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing

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