These patients may present for implantable cardioverter defibrillator placement or left cervical ganglionectomy. [ijaweb.org]

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]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]

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]

It may sometime present as epilepsy. [1], [2] It is a cause of syncope and sudden death. [annalsofian.org]

• 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]

• Normal Hearing

  The parents and 2 other children were healthy and had normal hearing. The deaf-mute children all suffered attacks of fainting, probably Adams-Stokes seizures caused by standstill of the heart. [litfl.com]

  In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine, where it is involved in transporting molecules across cell membranes. [preventiongenetics.com]

  hearing and the suggestion by Fraser et al 4 of a genetic relationship between the two, the two syndromes were considered variants of one disease under the unifying name of long-QT syndrome, with the acronym LQTS. 5 As we wrote 25 years ago, “There are [ahajournals.org]

  Phenotype in hearing first-degree relatives Cardiac phenotype in first-degree relatives with normal hearing was largely asymptomatic, according to the interview data. [academic.oup.com]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p15.5” refers to band 15 on the short arm of chromosome 11. [rarediseases.org]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p15.5” refers to band 15 on the short arm of chromosome 11. [rarediseases.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]

• 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]

  Title Other Names: JLNS1; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; JLNS1; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome [rarediseases.info.nih.gov]

  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]

  […] and sudden death at the age of 13. [ Levine, 1958 ] 1964 – Fraser suggested that heterozygous family members of persons with JLNS may show slight or moderate prolongation of the QT interval 1979 – International Long-QT Syndrome Registry was initiated [litfl.com]

  Review. 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 QT interval in EKG [ghr.nlm.nih.gov]

• Early Repolarization

  The list of familial arrhythmia syndromes has been in recent years expanded by the recognition of two other disorders, namely early repolarization syndrome and idiopathic ventricular fibrillation (VF) [ 7 ]. [jmedicalcasereports.biomedcentral.com]

[…] 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 [ edit ] Jervell and Lange-Nielsen [en.wikipedia.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

Other causes include myocardial problems such as myopathies and ischemia and central nervous system injuries. [12] Prognosis Greater than half of untreated children with JLNS die before age 15. [2] Prognosis is highly dependent on which gene is mutated [statpearls.com]

In this context, if the patient has had syncopal episodes or history of cardiac arrest, an implantable cardiac defibrillator should be used in addition to a beta blocker such as propranolol. [3] Prognosis [ edit ] The risk of arrhythmias is higher for [en.wikipedia.org]

Prognosis Despite genetic heterogeneity, 3 genes explain >90% of LQTS cases: KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A (LQT3). [itaca.edu.es]

Differential Diagnosis The other most common etiologies of long QT syndromes are Romano-Ward syndrome, Timothy syndrome, Andersen-Tawil syndrome, and acquired. [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]

Etiology of sudden death in an apparently normal heart (7-10) Congenital LQTS inside the genetic anomalies of the ion channels So far, there is a spectrum of inherited arrhythmia syndromes arising from genetic defects in structures involved in the genesis [romanianjournalcardiology.ro]

[…] 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]

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

Epidemiology of symptomatic drug-induced long QT syndrome and Torsade de Pointes in Germany. Europace. 2014;16(1):101-108. doi: 10.1093/europace/eut214. [journal-grsmu.by]

Due to established genetic traits, Norway and Sweden both have an unusually high prevalence at 1 in 200,000. [2] There have been also been reports of increased incidence in Turkey. [2] [3] Pathophysiology The cardiac action potential comprises a depolarization [statpearls.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]

This device detects an abnormal rhythm and sends an electrical shock to the heart, preventing syncope. Regular follow-up with the patient’s pediatrician/primary care doctor and cardiologist are important in preventing complications. [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]

Principles of management of the LQTS As not all syncopes in a patient having LQTS are automatically due to TdP, the treatment of any form of LQTS is essentially the prevention and termination of TdP and consequently the prevention of sudden cardiac death [romanianjournalcardiology.ro]

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