August 14, 2006Journal of Cardiovascular Electrophysiology101 citations
Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange‐Nielsen Syndrome
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Key Result
Jervell and Lange-Nielsen syndrome was associated with a significantly higher cumulative rate of cardiac events from birth through age 40 compared to Romano-Ward syndrome (93% vs 54%, P<0.001).
Study Design
Type
Cohort (n=2,218)
Multicenter
Yes
Structured PICO
Does Jervell and Lange-Nielsen syndrome increase the risk of cardiac events compared to Romano-Ward syndrome in patients with congenital long-QT syndrome?
P
Population
2,218 patients from the U.S. portion of the International LQTS Registry, including 44 with Jervell and Lange-Nielsen syndrome (JLNS) and 2,174 with Romano-Ward syndrome (RWS), which included a subgroup of 285 patients with type 1 LQTS (LQT1).
I
Intervention
Jervell and Lange-Nielsen syndrome (JLNS) diagnosis
C
Comparator
Romano-Ward syndrome (RWS) and type 1 LQTS (LQT1) diagnosis
O
Outcome
Cumulative rates of cardiac events from birth through age 40hard clinical
Patients with Jervell and Lange-Nielsen syndrome experience a significantly higher rate of early cardiac events and mortality compared to other forms of long-QT syndrome, highlighting the potential need for early defibrillator therapy.
Main Result
Absolute Event Rate: 93% vs 54%
p-value: p=<0.001
Limitations
- Longer follow-up is needed to establish the long-term efficacy of defibrillator therapy.
Abstract
Introduction: 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.