CASE PRESENTATION: We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. [ncbi.nlm.nih.gov]

• Turkish

  The case presented here is the third molecularly confirmed Turkish JLNS case; it emphasizes the importance of timely genetic diagnosis, which allows appropriate genetic counseling and prenatal diagnosis, as well as proper management of the condition. [ncbi.nlm.nih.gov]

  […] novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. ( 28595573 ) Nishimura M....Nomura F. 2017 9 "Homozygous, and compound heterozygous mutation in 3 Turkish [malacards.org]

  Source of the Document Annals of Indian Academy of Neurology. 2013; [Pubmed] 2 Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family Ozlem Bostan,Sehime G. Temel,Hakan Cangül,Caroline N. S. [annalsofian.org]

  About this article Publication history Issue Date 01 November 1997 DOI https://doi.org/10.1038/ng1197-267 Further reading “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports” Fahrettin [nature.com]

  American heart journal. 1957 Jul [PubMed PMID: 13435203] [3] Uysal F,Turkgenc B,Toksoy G,Bostan OM,Evke E,Uyguner O,Yakicier C,Kayserili H,Cil E,Temel SG, "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen [statpearls.com]

• Chest Discomfort

  Table 1 Genotype-phenotype correlation in the Chinese family with both RWS and JLNS and KCNQ1 mutation T322M I:1 M/71 No None 0.420 T322 T322 I:2 F/65 No Chest discomfort 0.487 T322 M322 II:1 F/42 No 1 syncope (trigger, exercise) 0.430 T322 M322 II:2 [bmcmedgenet.biomedcentral.com]

• Irregular Heart Rhythm

  These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome Chances of Developing Jervell and Lange-Nielsen Syndrome [ourmed.org]

  These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. [medlineplus.gov]

  These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. [3] Type OMIM Gene Notes JLNS1 192500 KCNQ1 Encodes the [en.wikipedia.org]

  These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. [owlapps.net]

• Left Ventricular Dysfunction

  Echocardiogram showed moderate left ventricular dysfunction. She underwent automatic internal cardiodefibrillator implantation in July 2010 due to beta-blocker drug refractoriness. [scielo.br]

• Miosis

  The initial evolution was satisfactory, with evidence of sympathetic denervation by anisocoria (left miosis), mild ptosis of the left lid and left upper limb heating (compared to the right). [scielo.br]

• Speech Disorder

  This disorder is a form of long QT syndrome, a cardiac disorder that causes the cardiac muscle to take longer than usual to recharge between beats. [unboundmedicine.com]

  同 語音了解閾値 " speech recognition threshold level スピーチオージオグラム 語音聴力検査，語音聴覚検査 S １ １ ８ spe speech chain speech discrimination test speech disorder speech level speech noise speech range speech reading speech recognition threshold speech retardation S speech [upslide.site]

• Tremor

  同 difference liemen for intensity （音の）強さの弁別閾検査 " test, IDL test int ６１ intensity modulated radiotherapy intention tremor interaural（intensity）level difference interaural attenuation interaural latency difference interaural time difference intercellular [upslide.site]

• Flaccid Paralysis

  The prognosis is dismal, with an average age of death in patients with this disease is 2.5 years.[10] Andersen Tawil syndrome is also a rare autosomal dominant disorder characterized by a triad of : Episodic flaccid paralysis, Prolonged QT interval/ventricular [statpearls.com]

This case is reported to highlight the importance of careful cardiac evaluation as a standard workup for cochlear implant. Preoperative and perioperative management of such cases is briefly discussed. [indianjotol.org]

During pre-anaesthesia workup, the child was still on mechanical ventilation with 100% oxygen. Chest auscultation revealed bilateral coarse crepitations (possible aspiration at the time of convulsions). [ijaweb.org]

• Hypochlorhydria

  We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis of KCNQ1 mutations. [ncbi.nlm.nih.gov]

• Candida

  半規管結石（症） C ２ ０ can C cancer of external auditory canal cancer malignancy cancer of the sinonasal tract cancer pain Candida candidiasis canine canine fossa canthoplasty capacitor microphone capillary hemangioma capsaicin capsid capsule car sickness carbon [upslide.site]

• Ventricular Repolarization Abnormalities

  This suggested that KCNE1 could be the morbid gene responsible for an autosomal recessive cardio-auditory disease, the Jervell and Lange-Nielsen syndrome, characterized by ventricular repolarization abnormalities and recurrent syncopes leading eventually [ncbi.nlm.nih.gov]

  This cardiac ventricular repolarization abnormality is characterized by a prolonged QT interval and a propensity for ventricular tachycardia (VT) of the torsades de pointes type. [link.springer.com]

We discuss diagnosis and management of this syndrome and also the long-term performance of cochlear implantation in these Iranian patients, referring especially to the role of the ENT specialist in diagnosis and treatment. [unboundmedicine.com]

Additionally, candidacy for cochlear implantation, currently the only medical treatment available for the treatment of profound sensorineural hearing loss, cannot be established without a comprehensive medical examination. [californiaearinstitute.com]

OBJECTIVE: The purpose of this study was to evaluate the safety and effect of pacing in addition to beta-blocker treatment in children with JLNS. [ncbi.nlm.nih.gov]

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]

Myocardial problems such as myopathies and ischemia and central nervous system injuries.[12] Prognosis More than half of untreated children with JLNS die before age 15.[2] Prognosis is highly dependent on which gene is mutated, gender, and baseline QTc [statpearls.com]

Prognosis More than half of untreated children die before 15 years of age. [orpha.net]

Prognosis - Jervell Lange-Nielsen syndrome Not supplied. [checkorphan.org]

RESULTS: Compound mutations of KCNQ1 were found to be the genetic etiology of four patients from three families. [ncbi.nlm.nih.gov]

Etiology JLNS is caused by homozygous or compound heterozygous mutations in either the KCNQ1 gene (locus LQT1; 11p15.5) or the KCNE1 gene (locus LQT5; 21q22.1-q22.2) and is inherited in an autosomal recessive manner. [orpha.net]

There was a marked prolongation of the QT interval on electrocardiographic studies with no other identifiable cause for the patient’s fainting spells.[1] Etiology JLNS is a congenital disorder that is inherited in an autosomal recessive manner. [statpearls.com]

LQTS is more likely to be a congenital etiology in children. [4] The congenital form of LQTS can be either a hereditary or nonhereditary sporadic form. [annalsofian.org]

Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.com]

Summary Epidemiology The disease is very rare. Prevalence is unknown and varies depending on the population studied (1/200,000-1/1,000,000) but is more common in countries in which consanguineous marriage is frequent. [orpha.net]

Epidemiology The disorder may be sporadic or transmitted as an autosomal-dominant trait. [patient.info]

[…] degree of QT prolongation, without treatment more than 50% of those affected will die before the age of 15. [6] However, treatment with beta blockers markedly reduces the risk of death, as does, in selected cases, implantation of a defibrillator. [6] Epidemiology [en.wikipedia.org]

The electrophysiological properties of the mutant I(Ks) channels explain the pathophysiology underlying JLNS. [ncbi.nlm.nih.gov]

Review the pathophysiology of Jervell and Lange Nielsen Syndrome. Outline the interprofessional team's strategies for improving care coordination and communication regarding the management of patients with Jervell and Lange Nielsen syndrome. [statpearls.com]

Pathophysiological mechanisms of dominant and recessive KVLQTI K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet 1997 ; 6 : 1943 –9 10 Chiang, CE. Congenital and acquired long QT syndrome. Current concepts and management. [cambridge.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Long QT syndrome (LQTS) is a genetic cardiac disorder characterized by QT prolongation and T-wave abnormalities on electrocardiogram [mayomedicallaboratories.com]

The role of the sympathetic nervous system in the long QT syndrome: the long road from pathophysiology to therapy. Long QT syndrome. Cardiac Electrophysiology Clinics, volume 4, number 1. Editors: Priori SG, Thakur RK, Natale A. [romanianjournalcardiology.ro]

Some heterozygous carriers of JLNS mutations in either gene may suffer from prolonged QTc and be symptomatic LQTS patients with a need for appropriate medical treatment to prevent life-threatening cardiac arrhythmia. [ncbi.nlm.nih.gov]

[…] further episodes * Seizures: Adjust medications to prevent seizures; no driving Resources - Jervell Lange-Nielsen syndrome Not supplied. [checkorphan.org]

Propranolol and nadolol have been shown to be superior to metoprolol in preventing cardiac events. [statpearls.com]