1.Catheter ablation of ventricular fibrillation storm in a long QT syndrome genotype carrier with normal QT interval.
Jonathan YAP ; Vern Hsen TAN ; Li Fern HSU ; Reginald LIEW
Singapore medical journal 2013;54(1):e1-4
Patients with long QT syndrome can sometimes present with a ventricular fibrillation (VF) storm. Catheter ablation of culprit premature ventricular complexes responsible for the triggering of the VF episodes may be required in rare cases of electrical storm that do not respond to conventional measures, and this can be life-saving. We describe a case of emergency catheter ablation in a young woman with a normal corrected QT interval, who presented with malignant VF storm for the first time. We also discuss the diagnostic and management challenges involved, as well as the value of genetic testing in refining the diagnosis.
Cardiology
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Catheter Ablation
;
methods
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Electrocardiography
;
methods
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Female
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Heart Arrest
;
genetics
;
therapy
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Heterozygote
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Humans
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Long QT Syndrome
;
genetics
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Tachycardia, Ventricular
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therapy
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Treatment Outcome
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Ventricular Fibrillation
;
therapy
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Ventricular Premature Complexes
;
genetics
;
therapy
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Young Adult
2.Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome.
Jun-zhu CHEN ; Xu-dong XIE ; Xing-xiang WANG ; Ming TAO ; Yun-peng SHANG ; Xiao-gang GUO
Chinese Medical Journal 2004;117(5):652-656
BACKGROUNDMutations in the cardiac sodium channel gene (SCN5A) may lead to a broad spectrum of familial arrhythmias, including long QT syndrome (LQTS), idiopathic ventricular fibrillation (IVF), and isolated cardiac conduction diseases. Recent studies have shown that polymorphisms in the SCN5A gene also play an important role in the manifestation of disorders involving cardiac excitability. In this study, we investigated the polymorphisms of the SCN5A gene in Han Chinese and its relation to Brugada syndrome (BS).
METHODSGenomic DNA was isolated from 120 unrelated healthy volunteers and 48 unrelated Brugada syndrome patients by means of standard procedures. All exons including the putative splicing sites of the SCN5A gene were amplified by PCR and sequenced directly or after subcloning using an ABI Prism 377 DNA sequencer.
RESULTSA total of 5 single nucleotide polymorphisms (SNPs) were identified in the Han Chinese population, including 3 novel ones: G87A(A29A), 4245 + 82A > G, and G6174A. The allele frequencies of each SNP in the Han Chinese population were as follows: G87A (A29A) 27.5%, A1673G (H558R) 10.4%, 4245 + 82A > G 32.8%, C5457T (D1819D) 41.3%, and G6174A 44.9%. S1102Y and 10 other SNPs identified in other ethnic populations were not detected in this study. There was no significant difference in the allele frequency of A1673G (H558R) between different ethnic populations (all P > 0.5). On the other hand, the allele frequency of C5457T (D1819D) among Han Chinese was similar to its frequency among Japanese (P > 0.5), but higher than that among Americans (P < 0.005). The allele G1673 (R558) was over-represented in BS patients compared to controls (P < 0.005), but there was no significant difference in genotype frequencies at this locus. There were also no differences in either the allele or genotype frequencies of the 4 other identified SNPs when comparing BS patients with healthy controls.
CONCLUSIONSThe distribution of SCN5A SNPs may vary between different ethnicities. The polymorphism of A1673G might be associated with BS and may contribute to a susceptibility to BS in Han Chinese.
Case-Control Studies ; China ; ethnology ; Gene Frequency ; Humans ; NAV1.5 Voltage-Gated Sodium Channel ; Polymorphism, Single Nucleotide ; Sodium Channels ; genetics ; Syndrome ; Ventricular Fibrillation ; genetics
3.Genetic Mutation in Korean Patients of Sudden Cardiac Arrest as a Surrogating Marker of Idiopathic Ventricular Arrhythmia.
Myoung Kyun SON ; Chang Seok KI ; Seung Jung PARK ; June HUH ; June Soo KIM ; Young Keun ON
Journal of Korean Medical Science 2013;28(7):1021-1026
Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find mutations in cardiac ion channel genes of Korean sudden cardiac arrest patients with structurally normal heart and to verify association between common genetic variation in cardiac ion channel and sudden cardiac arrest by idiopathic ventricular tachyarrhythmia in Koreans. Study participants were Korean survivors of sudden cardiac arrest caused by idiopathic ventricular tachycardia or fibrillation. All coding exons of the SCN5A, KCNQ1, and KCNH2 genes were analyzed by Sanger sequencing. Fifteen survivors of sudden cardiac arrest were included. Three male patients had mutations in SCN5A gene and none in KCNQ1 and KCNH2 genes. Intronic variant (rs2283222) in KCNQ1 gene showed significant association with sudden cardiac arrest (OR 4.05). Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene. None of female survivors of sudden cardiac arrest had SCN5A gene mutations despite similar frequencies of intronic variants between males and females in 55 normal controls. Common intronic variant in KCNQ1 gene is associated with sudden cardiac arrest caused by idiopathic ventricular tachyarrhythmia in Koreans.
Adolescent
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Adult
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Aged
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Arrhythmias, Cardiac/genetics
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*Death, Sudden, Cardiac
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Ether-A-Go-Go Potassium Channels/genetics
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Female
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Genetic Markers
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Genetic Predisposition to Disease
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Genetic Variation
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Heart/physiology
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Heart Conduction System/abnormalities
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Humans
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KCNQ1 Potassium Channel/*genetics
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Male
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Middle Aged
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NAV1.5 Voltage-Gated Sodium Channel/*genetics
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Republic of Korea
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Tachycardia, Ventricular/*genetics
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Ventricular Fibrillation/*genetics
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Young Adult
4.Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.
Moonhee OH ; In Jeong CHO ; Saeam SHIN ; Seung Tae LEE ; Jong Rak CHOI
Annals of Laboratory Medicine 2016;36(2):191-193
No abstract available.
Adult
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Brain/diagnostic imaging
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Bronchoscopy
;
*Chromosomes, Human, Pair 9
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Death, Sudden, Cardiac/*etiology
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Gene Duplication
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Humans
;
Karyotyping
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Male
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Mental Disorders/*complications/genetics/pathology
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Tomography, X-Ray Computed
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Tracheomalacia/diagnostic imaging
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Ventricular Fibrillation/complications
5.Effect of total flavonoids of buckwheat flower and leaf on myocardial cell apoptosis and Wnt/β-catenin/PPARγ pathway in arrhythmic rats.
Wei-Ping HE ; Jin-Cheng LI ; Gao-Ming WANG
China Journal of Chinese Materia Medica 2023;48(1):220-225
This paper aimed to investigate the effect of total flavonoids of buckwheat flower and leaf on myocardial cell apoptosis and Wnt/β-catenin/peroxisome proliferator-activated receptor γ(PPARγ) pathway in arrhythmic rats. SD rats were randomly divided into a control group, a model group, a low-dose(20 mg·kg~(-1)) group of total flavonoids of buckwheat flower and leaf, a medium-dose(40 mg·kg~(-1)) group of total flavonoids of buckwheat flower and leaf, a high-dose(80 mg·kg~(-1)) group of total flavonoids of buckwheat flower and leaf, a propranolol hydrochloride(2 mg·kg~(-1)) group, with 12 rats in each group. Except the control group, rats in other groups were prepared as models of arrhythmia by sublingual injection of 1 mL·kg~(-1) of 0.002% aconitine. After grouping and intervention with drugs, the arrhythmia, myocardial cells apoptosis, myocardial tissue glutathione peroxidase(GSH-Px), catalase(CAT), malondialdehyde(MDA), serum interleukin-6(IL-6), prostaglandin E2(PGE2) levels, myocardial tissue apoptosis, and Wnt/β-catenin/PPARγ pathway-related protein expression of rats in each group were measured. As compared with the control group, the arrhythmia score, the number of ventricular premature beats, ventricular fibrillation duration, myocardial cell apoptosis rate, MDA levels in myocardial tissues, serum IL-6 and PGE2 levels, Bax in myocardial tissues, and Wnt1 and β-catenin protein expression levels increased significantly in the model group, whereas the GSH-Px and CAT levels, and Bcl-2 and PPARγ protein expression levels in myocardial tissues reduced significantly. As compared with the model group, the arrhythmia score, the number of ventricular premature beats, ventricular fibrillation duration, myocardial cell apoptosis rate, MDA leve in myocardial tissues, serum IL-6 and PGE2 levels, Bax in myocardial tissues, and Wnt1 and β-catenin protein expression levels reduced in the drug intervention groups, whereas the GSH-Px and CAT levels and Bcl-2 and PPARγ protein expression levels in myocardial tissues increased. The groups of total flavonoids of buckwheat flower and leaf were in a dose-dependent manner. There was no significant difference in the levels of each index in rats between the propranolol hydrochloride group and the high-dose group of total flavonoids of buckwheat flower and leaf. The total flavonoids of buckwheat flower and leaf inhibit the activation of Wnt/β-catenin pathway, up-regulate the expression of PPARγ, reduce oxidative stress and inflammatory damage in myocardial tissues of arrhythmic rats, reduce myocardial cell apoptosis, and improve the symptoms of arrhythmia in rats.
Rats
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Animals
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PPAR gamma/metabolism*
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Fagopyrum/genetics*
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Rats, Sprague-Dawley
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bcl-2-Associated X Protein
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beta Catenin/metabolism*
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Interleukin-6
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Flavonoids/pharmacology*
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Propranolol/pharmacology*
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Ventricular Fibrillation
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Dinoprostone
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Wnt Signaling Pathway
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Plant Leaves/metabolism*
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Flowers/metabolism*
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Apoptosis
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Cardiac Complexes, Premature