Pediatric Cardiology

, Volume 34, Issue 8, pp 2063–2067

Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family


  • Ozlem Bostan
    • Department of Paediatric CardiologyFaculty of Medicine, University of Uludag
    • Department of Medical GeneticsFaculty of Medicine, University of Uludag
    • Department of Histology and EmbryologyFaculty of Medicine, University of Near East
  • Hakan Cangül
    • Department of Medical and Molecular GeneticsClinical and Experimental Medical Faculty, University of Birmingham
    • Department of Medical GeneticsFaculty of Medicine, University of Bahcesehir
  • Caroline N. S. Archer
    • Oxford Medical Genetics LaboratoriesCardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital
  • Ergun Çil
    • Department of Paediatric CardiologyFaculty of Medicine, University of Uludag
Case Report

DOI: 10.1007/s00246-013-0634-3

Cite this article as:
Bostan, O., Temel, Ş.G., Cangül, H. et al. Pediatr Cardiol (2013) 34: 2063. doi:10.1007/s00246-013-0634-3


Long QT syndrome is one of the most common cardiac ion channel diseases, but its morbidity and mortality rate can be lessened with an early diagnosis and proper treatment. 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. The long QT syndrome represents a high risk for presyncope, syncope, cardiac arrest, and sudden death. Jervell and Lange–Nielsen syndrome (JLNS) is a recessively inherited form of long QT syndrome characterized by profound sensorineural deafness and prolongation of the QT interval. Findings have shown that JLNS occurs due to homozygous and compound heterozygous pathogenic variants in KCNQ1 or KCNE1. A 3.5-year-old girl presented to the hospital with recurrent syncope, seizures, and congenital sensorineural deafness. Her electrocardiogram showed a markedly prolonged QT interval, and she had a diagnosis of JLNS. The sequence analysis of the proband showed the presence of a pathogenic homozygous missense variant (c.728G>A, p.Arg243His). Heterozygous mutations of KCNQ1 were identified in her mother, father, and sister, demonstrating true homozygosity. Even with high-dose beta-blocker therapy, the patient had two VT attacks, so an implantable cardioverter defibrillator was fitted. The authors suggest early genetic diagnosis for proper management of the disease in the proband and genetic counseling for both the proband and the girl’s extended family.


Autosomal recessive long QT syndromeDeafnessp.Arg243His

Copyright information

© Springer Science+Business Media New York 2013