Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients

• Published in: BMC medical genetics 2018-04, Vol.19 (1), p.56-56, Article 56
• Main Authors: 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
• Format: Article
• Language: English
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/s12881-018-0574-0

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 β-blocker treatment. In addition, an attempt was made to associate risk of events to specific types of KCNQ1 and KCNH2 mutations. 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. In mutation carriers, risk factors for cardiac events before initiation of β-blocker included LQT2 genotype (hazard ratio [HR] = 2.1, p = 0.002), female gender (HR = 3.2, p