Abstract | BACKGROUND: Patients with long QT syndrome (LQTS) who harbor multiple mutations (i.e. ≥ 2 mutations in ≥ 1 LQTS-susceptibility gene) may experience increased risk for life-threatening cardiac events. OBJECTIVES: The present study was designed to compare the clinical course of LQTS patients with multiple mutations to those with a single mutation. METHODS: RESULTS: Patients with multiple mutations (n=57) exhibited a longer QTc at enrollment compared with those with a single mutation (mean ± SD: 506 ± 72 vs. 480 ± 56 msec, respectively; P=0.003) and had a higher rate of life threatening cardiac events during follow-up (23% vs. 11%, respectively; p=0.031). Consistently, multivariate analysis demonstrated that patients with multiple mutations had a 2.3-fold (P=0.015) increased risk for life threatening cardiac events as compared to patients with a single mutation. The presence of multiple mutations in a single LQTS gene was associated with a 3.2-fold increased risk for life threatening cardiac events (P=0.010) whereas the risk associated with multiple mutation status involving >1 LQTS gene was not significantly different from the risk associated with a single mutation (HR 1.7, P=0.26). CONCLUSIONS: LQTS patients with multiple mutations have a greater risk for life-threatening cardiac events as compared to patients with a single mutation.
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Authors | Jamie Mullally, Ilan Goldenberg, Arthur J Moss, Coeli M Lopes, Michael J Ackerman, Wojciech Zareba, Scott McNitt, Jennifer L Robinson, Jesaia Benhorin, Elizabeth S Kaufman, Jeffrey A Towbin, Alon Barsheshet |
Journal | Heart rhythm
(Heart Rhythm)
Vol. 10
Issue 3
Pg. 378-82
(Mar 2013)
ISSN: 1556-3871 [Electronic] United States |
PMID | 23174487
(Publication Type: Comparative Study, Journal Article, Multicenter Study, Research Support, N.I.H., Extramural)
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Copyright | Copyright © 2013 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved. |
Topics |
- Adult
- Death, Sudden, Cardiac
(epidemiology, etiology)
- Electrocardiography
- Female
- Follow-Up Studies
- Genetic Predisposition to Disease
- Genotype
- Global Health
- Humans
- Incidence
- Long QT Syndrome
(complications, genetics)
- Male
- Mutation
- Registries
- Risk Factors
- Survival Rate
(trends)
- Young Adult
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