1. Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients
- Author
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Koponen, Mikael, Havulinna, Aki S., Marjamaa, Annukka, Tuiskula, Annukka M., Salomaa, Veikko, Laitinen-Forsblom, Päivi J., Piippo, Kirsi, Toivonen, Lauri, Kontula, Kimmo, Viitasalo, Matti, Swan, Heikki, Department of Medicine, HUS Heart and Lung Center, Complex Disease Genetics, Clinicum, Kimmo Kontula Research Group, University of Helsinki, Kardiologian yksikkö, and HUS Internal Medicine and Rehabilitation
- Subjects
ARRHYTHMIAS ,congenital, hereditary, and neonatal diseases and abnormalities ,lcsh:Internal medicine ,IDENTIFICATION ,lcsh:QH426-470 ,BETA-BLOCKERS ,CARDIAC EVENTS ,EFFICACY ,Cardiac arrhythmia ,Implantable cardioverter-defibrillator ,GENOTYPE ,lcsh:Genetics ,STRATIFICATION ,β-blocker ,MUTATION-SPECIFIC RISK ,beta-blocker ,MANAGEMENT ,3111 Biomedicine ,Long QT syndrome ,lcsh:RC31-1245 ,Risk stratification - Abstract
Background: Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not receiving beta-blocker treatment. In addition, an attempt was made to associate risk of events to specific types of KCNQ1 and KCNH2 mutations. Methods: A follow-up study covering a mean of 18.6 +/- 6.1 years was conducted in 867 genetically confirmed LQT1 and LQT2 patients and 654 non-carrier relatives aged 18-40 years. Cox regression models were used to evaluate the contribution of clinical and genetic risk factors to cardiac events. Results: In mutation carriers, risk factors for cardiac events before initiation of beta-blocker included LQT2 genotype (hazard ratio [HR] = 2.1, p = 0.002), female gender (HR = 3.2, p = 500 ms (vs G and other KCNQ1 mutation carriers after adjusting for gender, QTc duration, and cardiac events before age 18. KCNH2 c. 453delC, L552S and R176W mutations associated with lower risk (HR = 0.11-0.23, p
- Published
- 2018
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