[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].
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.
Medizinische 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
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G
Mönnig
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E
Schulze-Bahr
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H
Wedekind
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L
Eckardt
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P
Kirchhof
H
H
Funke
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S
Kotthoff
J
J
Vogt
G
G
Assmann
G
G
Breithardt
W
W
Haverkamp
D004252:DNA Mutational Analysis; D006801:Humans; D029593:Jervell-Lange Nielsen Syndrome / Q000175:diagnosis / Q000235:genetics*; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D011379:Prognosis
D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C059983:potassium channel protein I(sk)