Jervell-Lange Nielsen syndrome in a family with the long QT syndrome (LQTS)

Mondal, Rakesh; Karmakar, Balai Chandra; Chandra, P. K.; Sarkar, Uday Narayan

doi:10.1007/bf02759930

Cited by 7 publications

(3 citation statements)

References 8 publications

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“…Two other case reports have demonstrated a reduction in symptoms in patients with JLNS after LCSD: 1 with no postoperative symptoms and the other demonstrating ventricular ectopy immediately after surgery but not since the 18-month follow-up. 21,22 Again, LCSD should not preclude ICD placement in a patient with JLNS who has been assessed to be at high risk.…”

Section: Discussionmentioning

confidence: 99%

Videoscopic Left Cardiac Sympathetic Denervation for Patients With Recurrent Ventricular Fibrillation/Malignant Ventricular Arrhythmia Syndromes Besides Congenital Long-QT Syndrome

Coleman

Bos

Johnson

et al. 2012

Circ: Arrhythmia and Electrophysiology

107

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Background Treatment options for patients with recurrent ventricular arrhythmias refractory to pharmacotherapy and ablation are minimal. Although left cardiac sympathetic denervation (LCSD) is well established in long-QT syndrome, its role in non-long-QT syndrome arrhythmogenic channelopathies and cardiomyopathies is less clear. Here, we report our single-center experience in performing LCSD in this setting. Methods and Results In this institutional review board-approved study, we retrospectively reviewed the electronic medical records of all patients (N=91) who had videoscopic LCSD at our institution from 2005 to 2011. Data were analyzed for the subset (n=27) who were denervated for an underlying diagnosis other than autosomal dominant or sporadic long-QT syndrome. The spectrum of arrhythmogenic disease included catecholaminergic polymorphic ventricular tachycardia (n=13), Jervell and Lange-Nielsen syndrome (n=5), idiopathic ventricular fibrillation (n=4), left ventricular noncompaction (n=2), hypertrophic cardiomyopathy (n=1), ischemic cardiomyopathy (n=1), and arrhythmogenic right ventricular cardiomyopathy (n=1). Five patients had LCSD because of high-risk assessment and β-blocker intolerance, none of whom had a sentinel breakthrough cardiac event at early follow-up. Among the remaining 22 previously symptomatic patients who had LCSD as secondary prevention, all had an attenuation in cardiac events, with 18 having no breakthrough cardiac events so far and 4 having experienced ≥1 post-LCSD breakthrough cardiac event. Conclusions LCSD may represent a substrate-independent antifibrillatory treatment option for patients with life-threatening ventricular arrhythmia syndromes other than long-QT syndrome. The early follow-up seems promising, with a marked reduction in the frequency of cardiac events postdenervation.

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Section: Discussionmentioning

confidence: 99%

Videoscopic Left Cardiac Sympathetic Denervation for Patients With Recurrent Ventricular Fibrillation/Malignant Ventricular Arrhythmia Syndromes Besides Congenital Long-QT Syndrome

Coleman

Bos

Johnson

et al. 2012

Circ: Arrhythmia and Electrophysiology

107

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“…The proband referred as a 6-year old boy was categorized as a patient of JLN syndrome, a recessive form of Long QT syndrome (LQTS) based on the clinical diagnostic criteria with a history of parental consanguinity, neonatal sibling deaths, age at onset of 6 months and deafness associated with mutations in KCNQ1 gene [16] , [17] . The electropherogram (on repeated sequencing) of the parents, sibling and maternal grandmother revealed a carrier status while the proband harbored recessive variations.…”

Section: Resultsmentioning

confidence: 99%

Genotype–phenotype correlation in long QT syndrome families

Qureshi

Ali

Ananthapur

et al. 2015

Indian Pacing and Electrophysiology Journal

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Heterogeneity in clinical manifestations is a well-known feature in Long QT Syndrome (LQTS). The extent of this phenomenon became evident in families wherein both symptomatic and asymptomatic family members are reported. The study hence warrants genetic testing and/or screening of family members of LQTS probands for risk stratification and prediction.Of the 46 families screened, 18 probands revealed novel variations/compound heterozygosity in the gene/s screened. Families 1–4 revealed probands carrying novel variations in KCNQ1 gene along with compound heterozygosity of risk genotypes of the SCN5A, KCNE1 and NPPA gene/s polymorphisms screened. It was also observed that families- 5, 6 and 7 were typical cases of “anticipation” in which both mother and child were diagnosed with congenital LQTS (cLQTS). Families- 16 and 17 represented aLQTS probands with variations in IKs and INa encoding genes. First degree relatives (FDRs) carrying the same haplotype as the proband were also identified which may help in predictive testing and management of LQTS. Most of the probands exhibiting a family history were found to be genetic compounds which clearly points to the role of cardiac genes and their modifiers in a recessive fashion in LQTS manifestation.

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“…In evaluating the ECGs of the patient's mother and sister, their QTc intervals were 0.54 sec and 0.50 sec, respectively, and they also had asymptomatic prolonged QTc. This 10-year-old child had Jervell and Lange-Nielsen syndrome and had been wrongly treated with anticonvulsant drugs for years 12 .…”

Section: Resultsmentioning

confidence: 99%

Prevalence of prolonged QTcinterval in electrocardiograms of 1 -12 year-old seizure patients

Yousefi¹,

Sadrnia²,

Rafiei³

et al. 2012

Nig. J. Paed.

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Background: Children with long QT intervals are prone to life-threatening ventricular arrhythmias which may lead to seizure and syncope and may be misdiagnosed as seizure.Objective: This study aimed to assess the frequency of long QT intervals in children with and without convulsion.Method: This study is case-control. ECG tracings were requested for all children aged between one to twelve years who were hospitalized due to convulsion with no underlying etiology and simultaneously for children of the same age and gender who were admitted due to other than seizure as case group. Consequently, QT intervals were measured and compared in the two groups.Results: If long QT interval was defined to be longer than 0.47 second, no significant difference was noted between two groups. On the other hand, if this interval was defined to be equal to or longer than 0.46 second, long QT intervals are more frequent in convulsive children. Conclusions: In this study, long QT interval, defined as QT interval ³ 0.46 second, is found more frequently in children with seizure than non-convulsing ones. It is recommended that children with history of seizure without any identifiable causes and that is unresponsive to anticonvulsive drugs should be investigated with ECG.

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Jervell-Lange Nielsen syndrome in a family with the long QT syndrome (LQTS)

Cited by 7 publications

References 8 publications

Videoscopic Left Cardiac Sympathetic Denervation for Patients With Recurrent Ventricular Fibrillation/Malignant Ventricular Arrhythmia Syndromes Besides Congenital Long-QT Syndrome

Videoscopic Left Cardiac Sympathetic Denervation for Patients With Recurrent Ventricular Fibrillation/Malignant Ventricular Arrhythmia Syndromes Besides Congenital Long-QT Syndrome

Genotype–phenotype correlation in long QT syndrome families

Prevalence of prolonged QTcinterval in electrocardiograms of 1 -12 year-old seizure patients

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