[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome]

Z Kardiol. 2002 May;91(5):380-8. doi: 10.1007/s00392-002-0789-z.
[Article in German]

Abstract

In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-W syndrome, but also by congenital deafness. Recently, defect alleles in the genes for KCNQ1 and KCNE1 have been identified in patients with the J-LN syndrome. These genes may be causative for the R-W syndrome as well but in J-LN patients, they are only present in the homozygote or compound heterozygote form. In the present paper, we review the clinical and genetic similarities and differences of the J-LN and the R-W syndrome as well as the diagnostic and therapeutic management of these patients and their family members.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA Mutational Analysis
  • Humans
  • Jervell-Lange Nielsen Syndrome / diagnosis
  • Jervell-Lange Nielsen Syndrome / genetics*
  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics
  • Mutation, Missense / genetics
  • Pedigree
  • Phenotype
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*
  • Prognosis

Substances

  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • potassium channel protein I(sk)