title: The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?
abstract: Patients with Jervell and Lange-Nielsen syndrome (JLNS) exhibit severe phenotypes that are characterized by congenital deafness, very long QT intervals, and high risk of life-threatening arrhythmias. Current treatment strategies include high doses of beta-blocker medication, left cardiac sympathetic denervation, and ICD placement, which is challenging in young children.
  
  
  
  The purpose of this study was to evaluate the safety and effect of pacing in addition to beta-blocker treatment in children with JLNS.
  
  
  
  All genetically confirmed patients with JLNS born since 1999 in Norway were included in the study. Data on history of long QT syndrome-related symptoms, QT interval, and beta-blocker and pacemaker treatment were recorded.
  
  
  
  A total of 9 patients with QT intervals ranging from 510 to 660 ms were identified. Eight patients developed long QT syndrome-related symptoms, and 1 patient died before diagnosis. The survivors received beta-blocker medication. Seven patients also received a pacemaker; 1 had a ventricular lead and 6 had atrial leads. The patient with the ventricular lead died during follow-up. The 6 patients with atrial leads survived without events at a mean follow-up of 6.9 years after pacemaker implantation. Two patients received prophylactic upgrade to a 2-chamber ICD.
  
  
  
  No arrhythmic events occurred in 6 very young JLNS patients who received atrial pacing in combination with increased doses of beta-blockers during 7-year follow-up. If confirmed in additional patients, this treatment strategy may prevent life-threatening arrhythmias in this high-risk patient group and may act as a bridge to insertion of a 2-chamber ICD when left cardiac sympathetic denervation is not available.
authors.affiliation: Department of Paediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Andreas
authors.initials: A
authors.lastname: Früh
authors.affiliation: Department of Otorhinolaryngology, Oslo University Hospital, Oslo, Norway.
authors.forename: Geir
authors.initials: G
authors.lastname: Siem
authors.affiliation: Department of Paediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Henrik
authors.initials: H
authors.lastname: Holmström
authors.affiliation: Department of Paediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Gaute
authors.initials: G
authors.lastname: Døhlen
authors.affiliation: Center for Cardiological Innovation, Department of Cardiology and Institute of Surgical Research, Oslo University Hospital, Oslo, Norway; University of Oslo, Oslo, Norway. Electronic address: kristina.haugaa@rr-research.no.
authors.forename: Kristina H
authors.initials: KH
authors.lastname: Haugaa
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000008:administration & dosage*; D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000517:prevention & control; D002304:Cardiac Pacing, Artificial / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods; D003638:Deafness / Q000151:congenital / Q000601:surgery; D017147:Defibrillators, Implantable; D004305:Dose-Response Relationship, Drug; D004562:Electrocardiography / Q000379:methods; D005260:Female; D006329:Heart Conduction System / Q000187:drug effects / Q000503:physiopathology; D006801:Humans; D007223:Infant; D029593:Jervell-Lange Nielsen Syndrome / Q000150:complications / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation; D009664:Norway / Q000453:epidemiology; D010043:Outcome and Process Assessment, Health Care; D013562:Sympathectomy / Q000379:methods*
chemical_list: D000319:Adrenergic beta-Antagonists; D051657:KCNQ1 Potassium Channel
keywords: Arrhythmia; Cardiac pacing; Genetics; Implantable cardioverter–defibrillator; Jervell and Lange-Nielsen syndrome; Long QT syndrome