Referenced in: none

Automatically associated channels: Kv7.1

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

Authors: G Mönnig, E Schulze-Bahr, H Wedekind, L Eckardt, P Kirchhof, H Funke, S Kotthoff, J Vogt, G Assmann, G Breithardt, W Haverkamp

Journal, date & volume: , 2002 May , 91, 380-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12132284

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.