Syndrome de Jervell et Lange-Nielsen. Histoire naturelle, bases moléculaires et devenir clinique

Translated title of the contribution: The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome

Isabelle Denjoy, J. M. Lupoglazoff, E. Villain, G. Vaksmann, F. Godart, V. Lucet, A. Leenhardt, P. Guicheney, P. Schwartz

Research output: Contribution to journalArticlepeer-review

Abstract

Data on the Jervell and Lange-Nielsen syndrome (JLN), the long QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the IKs current, are still largely based on case reports. We analyzed data from 186 JLN patients obtained from the literature (31 %) and from individual physicians (69 %). Most patients (86 %) had cardiac events and 50 % were symptomatic already by age 3. Their QTc was markedly prolonged (557 ± 65 ms). Most of the arrhythmic events (95 %) were triggered by emotions or exercise. Females are at lower risk for cardiac arrest and sudden death (CA/SD). A QTc > 550 ms and history of syncope during the first year of life are independent predictors of subsequent CA/SD. Most mutations (90.5 %) are on the KCNQ1 gene ; mutations on the KCNE1 gene are associated with a more benign course. β-blockers have only partial efficacy as 51 % of the patients had events despite therapy and 29 % had CA/SD. Conclusions : JLN syndrome is a most severe variant of LQTS, with a very early onset, major QTc prolongation, and is not well responsive to β-blockers. Subgroups at relatively lower risk for CA/SD are identifiable and include females, patients with a QTc£550 ms, without events in the first year of life, and with mutations on KCNE1. Early therapy with ICDs has to be considered.

Translated title of the contributionThe Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome
Original languageFrench
Pages (from-to)359-364
Number of pages6
JournalArchives des Maladies du Coeur et des Vaisseaux
Volume100
Issue number5
Publication statusPublished - May 2007

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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