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Z Kardiol. 2002 May;91(5):380-8.

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

[Article in German]

Author information

  • 1Medizinische Klinik und Poliklinik C-Kardiologie und Angiologie Universitätsklinikum Münster, Institut für Arterioskleroseforschung Westfälische Wilhelms-Universität Münster Albert-Schweitzer-Strasse 33 48129 Münster, Germany. moennig@uni-muenster.de

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.

PMID:
12132284
[PubMed - indexed for MEDLINE]
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