Back to Search
Start Over
[The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome].
- Source :
-
Archives des maladies du coeur et des vaisseaux [Arch Mal Coeur Vaiss] 2007 May; Vol. 100 (5), pp. 359-64. - Publication Year :
- 2007
-
Abstract
- Unlabelled: 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. beta-blockers have only partial efficacy as 51% of the patients had events despite therapy and 29% had CA/SD.<br />Conclusions: JLN syndrome is a most severe variant of LQTS, with a very early onset, major QTc prolongation, and is not well responsive to beta-blockers. Subgroups at relatively lower risk for CA/SD are identifiable and include females, patients with a QTc pound550 ms, without events in the first year of life, and with mutations on KCNE1. Early therapy with ICDs has to be considered.
- Subjects :
- Adolescent
Adrenergic beta-Antagonists therapeutic use
Adult
Age Factors
Child
Child, Preschool
Death, Sudden, Cardiac etiology
Electrocardiography
Emotions
Exercise physiology
Female
Heart Arrest etiology
Humans
Infant
Jervell-Lange Nielsen Syndrome drug therapy
Jervell-Lange Nielsen Syndrome genetics
KCNQ1 Potassium Channel genetics
Male
Mutation genetics
Potassium Channels, Voltage-Gated genetics
Retrospective Studies
Sex Factors
Syncope etiology
Jervell-Lange Nielsen Syndrome complications
Subjects
Details
- Language :
- French
- ISSN :
- 0003-9683
- Volume :
- 100
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Archives des maladies du coeur et des vaisseaux
- Publication Type :
- Academic Journal
- Accession number :
- 17646758