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Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange‐Nielsen Syndrome
Author(s) -
GOLDENBERG ILAN,
MOSS ARTHUR J.,
ZAREBA WOJCIECH,
MCNITT SCOTT,
ROBINSON JENNIFER L.,
QI MING,
TOWBIN JEFFREY A.,
ACKERMAN MICHAEL J.,
MURPHY LAURA
Publication year - 2006
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/j.1540-8167.2006.00587.x
Subject(s) - medicine , long qt syndrome , hazard ratio , qt interval , cardiology , confidence interval , pediatrics , retrospective cohort study
Data regarding risk factors and clinical course of patients affected with Jervell and Lange‐Nielsen syndrome (JLNS), an autosomal recesssive form of the congenital long‐QT syndrome (LQTS), are limited to several reported cases and a retrospective analysis.Methods and Results:We prospectively followed‐up 44 JLNS patients from the U.S. portion of the International LQTS Registry and compared their clinical course with 2,174 patients with the phenotypically determined dominant form of LQTS (Romano‐Ward syndrome [RWS]) and a subgroup of 285 patients with type 1 LQTS (LQT1). Mean (±SD) corrected QT interval (QTc) in the JLNS, RWS, and LQT1 groups were 548 ± 73, 500 ± 48, and 502 ± 46 msec, respectively (P < 0.001). The cumulative rates of cardiac events from birth through age 40 among JLNS and RWS patients were 93% (mean [±SD] age: 5.0 ± 7.0 years) and 54% (mean [±SD] age: 14.2 ± 9.3 years), respectively (P < 0.001). The JLNS:RWS and JLNS:LQT1 adjusted hazard ratios (HR) for cardiac events were highest among patients with a baseline QTc ≥550 msec (HR = 15.83 [P < 0.001] and 13.80 [P < 0.001], respectively). Among JLNS patients treated with beta‐blockers, the cumulative probability of LQTS‐related death was 35%; defibrillator therapy was associated with a 0% mortality rate during a mean (±SD) follow‐up period of 4.9 ± 3.4 years.Conclusions:Patients with JLNS experience a high rate of cardiac and fatal events from early childhood despite medical therapy. Defibrillator therapy appears to improve outcome in this high‐risk population, although longer follow‐up is needed to establish its long‐term efficacy.