Treatment includes beta-blockers, however if syncope or sustained ventricular arrhythmias are present, an implantable cardioverter defibrillator (ICD) is indicated to prevent sudden cardiac death. [healio.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. [jmedicalcasereports.biomedcentral.com]

Torsade de Pointes with severe vitamin D deficiency, an unusual presentation of a common problem. [amboss.com]

This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS. © 2016 Wiley Periodicals, Inc. [pubmed.ncbi.nlm.nih.gov]

By contrast, no significant difference was present among LQT2 and LQT3 patients despite a trend in the same direction. [ahajournals.org]

• Asymptomatic

  The QTc of the very young asymptomatic subjects (563±70 ms) is similar to that of the symptomatic subjects (561±64 ms), which is significantly longer than that of the patients truly likely to remain asymptomatic (488±47 ms; P=0.004) (Figure 4B). [ahajournals.org]

  Most patients with LQTS are asymptomatic, but some present with seizures, syncope, or even life-threatening arrhythmias and sudden death. [amboss.com]

  Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. [rarediseases.org]

  This diagnosis allowed us to provide an appropriate course of management to the patient and to identify and counsel asymptomatic heterozygous carriers. References 1. Winbo A, Stattin EL, Diamant UB, Persson J, Jensen SM, Rydberg A. [jmedicalcasereports.biomedcentral.com]

  […] than among LQT1 patients.44 In the same study, we stratified risk according to the genotype, in conjunction with other clinical variables such as sex and length of QT interval and proposed a risk stratification scheme to be used in the management of asymptomatic [revespcardiol.org]

• Anemia

  Iron-deficient anemia and elevated levels of gastrin are also frequent symptoms of JLNS. JLNS is inherited in an autosomal recessive manner. An estimated prevalence of disorder is 1.6 to 6 per 1 million. [asperbio.com]

  Other pertinent clues are a history of iron deficiency anemia and elevated gastrin levels.[2] A physical exam is mostly unremarkable other than deafness. [statpearls.com]

  Palpitations Laboratory Findings Laboratory findings consistent with the diagnosis of Jervell and Lange-Nielsen syndrome (JLNS) include:[56][57][58][59] Anemia: patients with Jervell and Lange-Nielsen syndrome (JLNS) are more prone to develop anemia especially [wikidoc.org]

  Low levels of iron and increased levels of gastrin are often present in patients with JLNS, possibly leading to iron deficient anemia. [rarediseases.org]

• Surgical Procedure

  In those who experience recurrent arrhythmias despite medical therapy, a surgical procedure called sympathetic denervation can be used to interrupt the nerves that stimulate the heart. [owlapps.net]

  procedure has implications in a patient with JLNS. [statpearls.com]

  Individuals for whom beta blockers are unsuccessful may be treated by a surgical procedure in which certain nerves going to the heart are removed (left cardiac sympathetic denervation or sympathectomy). [rarediseases.org]

• Sudden Infant Death Syndrome

  "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome". Circulation. 115 (3): 361–7. doi:10.1161/CIRCULATIONAHA.106.658021. [wikidoc.org]

  Genetics in Sudden Infant Death Syndrome and Sudden Unexplained Death Syndrome A molecular study in 201 Norwegian sudden infant death syndrome (SIDS) victims showed that genetic variants in LQTS genes are present in 9.5% of SIDS victims.27 A very recent [revespcardiol.org]

• Developmental Delay

  delays, autism spectrum disorders. [statpearls.com]

• Heart Disease

  Other Names for This Condition Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen syndrome JLNS Prolonged [medlineplus.gov]

  Heart Disease. A Textbook of Cardiovascular Medicine. 3rd ed. Philadelphia, PA: W. B. Saunders Company; 1988:749, 1635. JOURNAL ARTICLES Schwartz PJ, Spazzolini C, Crotti L, et al. [rarediseases.org]

  disease with prolongation of the Q-T interval and sudden death. [statpearls.com]

  Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957;54(1):59–68. CAS Article PubMed Google Scholar 4. [jmedicalcasereports.biomedcentral.com]

  "Implications of implantable cardioverter defibrillator therapy in congenital heart disease and pediatrics". J Cardiovasc Electrophysiol. 15 (1): 72–6. doi:10.1046/j.1540-8167.2004.03388.x. [wikidoc.org]

• 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. [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]

• Chest Pain

  Some people may have mild chest pain with no loss of consciousness; others may lose consciousness completely or have grand mal seizures followed by a period of disorientation. [rarediseases.org]

  […] and is due to disruption of endolymph homeostasis in the cochlea and vestibular system[49] Syncope: Due to abnormal heart rhythm and is typically precipitous and without warning Seizures: Most commonly grand mal seizures Palpitations Mild to moderate chest [wikidoc.org]

• Prolonged QT Interval

  Jervell-Lange-Nielsen Syndrome is a genetic condition associated with a prolonged QT interval on the ECG and conginital hearing loss. A mutation of the cardiac potassium channel is responsible, specifically the KCNQ1 (90%) and KCNE1 (10%) genes. [healio.com]

  Etiology A prolonged QT interval may be congenital or acquired. [amboss.com]

  QT interval with ventricular tachyarrhythmias. [asperbio.com]

  The diagnosis of RWS is made based on a prolonged QT interval on ECG, clinical presentation, and family history. The most common genes associated with the syndrome are KCNQ1, KCNH2, and SCN5A. [statpearls.com]

  QT interval in EKG and sudden death Surdo-cardiac syndrome References Mizusawa Y, Horie M, Wilde AA. [medlineplus.gov]

• Torsades De Pointes

  de pointes and sudden cardiac death. [statpearls.com]

  These factors include a history of characteristic abnormal heart rhythms (Torsades de Pointes), unexplained blackouts (syncope), and a family history of confirmed LQT syndrome. [owlapps.net]

  The most common cardiac symptom associated with JLNS is partial or total loss of consciousness (syncope or fainting) accompanied by abnormally fast heart rhythms known as torsade de pointes (TdPs). [rarediseases.org]

  It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. [jmedicalcasereports.biomedcentral.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. [cambridge.org]

Treatment depends on the underlying cause: Beta blockers and implantable cardioverter defibrillator (ICD) insertion are commonly used for congenital LQTS, whereas treatment of the underlying cause (drug, electrolyte abnormality, etc.) is the first-line [amboss.com]

However, treatment with beta blockers markedly reduces the risk of death, as does, in selected cases, implantation of a defibrillator. [owlapps.net]

Treatment includes beta-blockers, however if syncope or sustained ventricular arrhythmias are present, an implantable cardioverter defibrillator (ICD) is indicated to prevent sudden cardiac death. [healio.com]

However, recently treatment with an implantable automatic cardioverter-defibrillator (ICD) has replaced sympathectomy as the treatment of choice in these individuals. [rarediseases.org]

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]

However, the prognosis is generally regarded as poor as most of the untreated patients die around the age of 15 years.[46] The prognosis varies with the gender, gene mutation and baseline QTc interval. [wikidoc.org]

Prognosis The risk of arrhythmias is higher for those with Jervell and Lange-Nielsen syndrome than other forms of long QT syndrome. [owlapps.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]

Etiology A prolonged QT interval may be congenital or acquired. [amboss.com]

[…] white infants.28 Given the growing consistency of these and other29 molecular autopsy reports, the challenge is to find a cost-effective and efficient means for presymptomatic detection of LQTS to reduce the morbidity and mortality of the subset of SIDS etiologically [revespcardiol.org]

↑ ACMG (2002) Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med 4 (3):162-71. [wikidoc.org]

Epidemiology Jervell and Lange-Nielsen syndrome affects an estimated one in 166,000 to 625,000 children, and is responsible for less than 10% of all cases of long QT syndrome. [owlapps.net]

"Current concepts in age-related hearing loss: epidemiology and mechanistic pathways". Hear Res. 303: 30–8. doi:10.1016/j.heares.2013.01.021. PMC 3723756. [wikidoc.org]

Most cases are due to deletion mutations in the KCNQ1 (90%) and KCNE1 genes, which encode proteins essential in the potassium channels' functions in the heart and cochlea.[2] Epidemiology The prevalence of the disorder highly depends on the population [statpearls.com]

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]

Acquired Long QT Syndrome: Definitions, Causes, and Pathophysiology. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/acquired-long-qt-syndrome .Last updated: January 3, 2018. Accessed: December 6, 2017. [amboss.com]

Electrophysiological analysis of sodium current demonstrated that mutant CAV-3 results in a 2- to 3-fold increase in late sodium current compared with wild-type CAV-3, a pathophysiological mechanism well established to cause QT prolongation.20 Distribution [revespcardiol.org]

Locus Gene Mutation Protein Involved Jervell and Lange-Nielsen syndrome 1 11p15.5-p15.4 KCNQ1 Potassium voltage-gated channel subfamily KQT member 1 Jervell and Lange-Nielsen syndrome 2 21q22.12 KCNE1 Potassium voltage-gated channel subfamily E member 1 Pathophysiology [wikidoc.org]

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

Treatment includes beta-blockers, however if syncope or sustained ventricular arrhythmias are present, an implantable cardioverter defibrillator (ICD) is indicated to prevent sudden cardiac death. [healio.com]

Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. [medlineplus.gov]

prevention of Jervell and Lange-Nielsen syndrome (JLNS). [wikidoc.org]