The cases are presented and discussed in a retrospective case review. Two of the children are dead. The corrected QT (QTc) interval in the ECG was markedly prolonged in all the children (median QTc, 0.59 sec; range, 0.53–0.65). [journals.lww.com]

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]

• Pathologist

  This team may consist of an otologist or otolaryngologist, cardiologist, audiologist, or speech language pathologist. [secure.ssa.gov]

  This group of individuals should include an Otologist or Otolaryngologist, Cardiologist, Audiologists, Speech-Language Pathologists, a clinical geneticist and a genetic counselor. [californiaearinstitute.com]

  言語発達遅滞 " velopment, retarded speech development 同 speech language pathologist 言語聴覚士 " 速度率 開閉速度率 蝶篩陥凹 同 sphenoidal sinus 蝶形骨洞 " 蝶形骨洞炎 蝶形骨洞手術 蝶口蓋動脈 蝶口蓋孔 蝶口蓋静脈 括約筋 括約機構 同 spine 棘 " 副神経リンパ節 副神経顔面神経吻合術 脊髄小脳変性症 同 auditory nerve ganglion ラセン神経節 " ラセン板 ラセン靱帯 [upslide.site]

• Impaired Balance

  Symptoms of impaired balance were reported in 14/14 deaf JLNS cases. Gross motor developmental delay (not walking without support at 18 months of age) was seen in 11/12 cases with available data (mean age for walking: 24 months). [ncbi.nlm.nih.gov]

• Pyrosis

  聴覚閾値レベル 同 pyrosis 胸焼け ! 熱ショック蛋白 H 鎖（免疫グロブリン） 重粒子線 同 uveoparotid fever ヘールフォルト症候群 ! 大耳輪筋 小耳輪筋 蝸牛孔 耳輪 蠕虫 ヘルパー T 細胞 同 hemagglutination inhibition reaction, 赤血球凝集抑制試験 ! HI test 凝集反応 赤血球凝集素 血管腫 単純性血管腫 血行性内耳炎 血腫 同 cryptogenic facial spasm 片側顔面攣縮 ! [upslide.site]

• 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 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 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. [owlapps.net]

• Normal Hearing

  One asymptomatic sibling of the proband had long QTc and normal hearing. The mother and another sibling were asymptomatic; QTc and hearing were normal in both. [ncbi.nlm.nih.gov]

  The latter is a feature of some but not all cases of this syndrome (the parents in this family had normal hearing). The risk of an irregular heart beat leading to the risk of sudden death can be reduced with an implanted defibrillator. [wohproject.org]

  Family members with one mutant KVLQT1 allele had the long-QT syndrome but had normal hearing. [nejm.org]

  Both I:2 and II:4 had normal hearing. Individual III:4 was a male with a borderline QTc of 0.447 s. No stress testing was performed for III:4 or other family members. [bmcmedgenet.biomedcentral.com]

• Hearing Impairment

  Importantly, none of the affected individuals had (or have) any hearing impairment. [ncbi.nlm.nih.gov]

  Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. [books.google.com]

  […] syndrome (KCNQ1, KCNE1) * WES hearing impairment (100.0% **) WES heart disorders* (100.0% **) WES Mendelian inherited disorders (100.0% **) ** % of the coding region of this gene has a coverage of 20x. [order.radboudumc.nl]

  Avoiding medical evaluation for Jervell-Lange-Nielsen syndrome or any other hearing impairment related condition is not recommended. [californiaearinstitute.com]

  Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Congenital sensorineural hearing impairment 0008527 Prolonged QT interval 0001657 Sudden cardiac death Premature sudden cardiac [rarediseases.info.nih.gov]

• Short Arm

  Keating et al 12 detected a DNA marker at the Harvey ras-1 locus on the short arm of chromosome 11 linked to a cohort of families with LQTS. [ispub.com]

• Suggestibility

  SUGGESTED PROGRAMMATIC ASSESSMENT* Suggested MER for Evaluation: • Clinical history and examination that describes the diagnostic features of the impairment; • Complete otologic examination and audiometric testing within 2 months of the otologic examination [secure.ssa.gov]

  When researching Jervell Lange-Nielsen syndrome, some studies suggest this is responsible for 9.5% of all the SIDS cases. [hearinghealthmatters.org]

  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]

• Speech Disorder

  , Source MeSH Child, Preschool Cochlear Implantation Female Hearing Loss, Sensorineural Humans Infant Jervell-Lange Nielsen Syndrome Male Retrospective Studies Speech Disorders Treatment Outcome Pub Type(s) Case Reports Journal Article Language eng [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]

• Insomnia

  […] malformation inner ear syphilis inner hair cell inner phalangeal cell inner pillar cell inner spinal bundle inner spiral tunnnel inositol trisphosphate input-output curve input-output function input sound pressure level insert earphone insertion gain insomnia [upslide.site]

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]

• Prolonged QT Interval

  QT Interval in EKG and Sudden Death, Cardioauditory Syndrome of Jervell and Lange Nielsen. [xpertdox.com]

  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. [ncbi.nlm.nih.gov]

  Jervell and Lange-Nielsen syndrome (JNLS) is a rare, potentially fatal autosomal recessive disorder, characterized by congenital deafness and prolonged QT interval in the electrocardiogram (ECG). [journals.lww.com]

• 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]

• T Wave Inversion

  These changes include prolongation of the QT interval and T-wave inversion. Treatment may include the use of beta-blockers to prevent the development of malignant ventricular arrhythmias and sudden death. [ncbi.nlm.nih.gov]

  Intraoperatively, there was no major cardiac event except for T-wave inversion which reverted to normal spontaneously at the end of the surgery. The child was shifted to the ICU on mechanical ventilation and anti-arrhythmic drugs. [ijaweb.org]

• T Wave Alternans

  His electrocardiogram revealed a markedly prolonged corrected QT interval with T wave alternans. [ncbi.nlm.nih.gov]

  His ECG revealed a markedly prolonged QTc interval of 530 ms (corrected by Bazett’s formula) and T-wave alternans on V1 to V4 (Fig. 2). Echocardiography showed a structurally normal heart. [jmedicalcasereports.biomedcentral.com]

• 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]

This site gives many links on treatments, genetic testing, physicians in your area and support if you know of anyone at high risk to this syndrome. for featured image [hearinghealthmatters.org]

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]

TREATMENT An interdisciplinary team of health care providers usually treat issues associated with JLNS. This team may consist of an otologist or otolaryngologist, cardiologist, audiologist, or speech language pathologist. [secure.ssa.gov]

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]

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]

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]

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]

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]

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]