title: Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
abstract: BACKGROUND
  Inherited long-QT syndrome (LQTS) is associated with risk of sudden death. We assessed the clinical course and the fulfillment of current treatment strategies in molecularly defined pediatric LQTS type 1 and (LQT1) and type 2 (LQT2) patients.
  
  
  RESULTS
  Follow-up data covering a mean of 12 years were collected for 316 genotyped LQT1 and LQT2 patients aged 0 to 18 years. No arrhythmic deaths occurred during the follow-up. Finnish KCNQ1 and KCNH2 founder mutations were associated with fewer cardiac events than other KCNQ1 and KCNH2 mutations (hazard ratio [HR], 0.33; P=0.03 and HR, 0.16; P=0.01, respectively). QTc interval ≥500 ms increased the risk of cardiac events compared with QTc <470 ms (HR, 3.32; P=0.001). Treatment with β-blocker medication was associated with reduced risk of first cardiac event (HR, 0.23; P=0.001). Noncompliant LQT2 patients were more often symptomatic than compliant LQT2 patients (18% and 0%, respectively; P=0.03). Treatment with implantable cardioverter defibrillator was rare (3%) and resulted in reinterventions in 44% of cases.
  
  
  CONCLUSIONS
  Severe cardiac events are uncommon in molecularly defined and appropriately treated pediatric LQTS mutation carriers. β-Blocker medication reduces the risk of cardiac events and is generally well tolerated in this age group of LQTS patients.
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.). mikael.koponen@helsinki.fi.
authors.forename: Mikael
authors.initials: M
authors.lastname: Koponen
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Annukka
authors.initials: A
authors.lastname: Marjamaa
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Anita
authors.initials: A
authors.lastname: Hiippala
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Juha-Matti
authors.initials: JM
authors.lastname: Happonen
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Aki S
authors.initials: AS
authors.lastname: Havulinna
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Veikko
authors.initials: V
authors.lastname: Salomaa
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Annukka M
authors.initials: AM
authors.lastname: Lahtinen
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Taina
authors.initials: T
authors.lastname: Hintsa
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Matti
authors.initials: M
authors.lastname: Viitasalo
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Lauri
authors.initials: L
authors.lastname: Toivonen
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Kimmo
authors.initials: K
authors.lastname: Kontula
authors.affiliation: From the Heart and Lung Center, Helsinki University Central Hospital (M.K., A.M., M.V., L.T., H.S.), Children's Hospital, Helsinki University Central Hospital (A.H., J.-M.H.), Department of Medicine, Helsinki University Central Hospital (A.M.L., K.K.), and Institute of Behavioural Sciences, Psychology (T.H.), University of Helsinki, Helsinki, Finland; and Department of Health, National Institute for Health and Welfare, Helsinki, Finland (A.S.H., V.S.).
authors.forename: Heikki
authors.initials: H
authors.lastname: Swan
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017147:Defibrillators, Implantable; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D005544:Forecasting; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051657:KCNQ1 Potassium Channel / Q000235:genetics* / Q000378:metabolism; D008133:Long QT Syndrome / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D008297:Male; D012307:Risk Factors; D029597:Romano-Ward Syndrome / Q000235:genetics* / Q000378:metabolism / Q000628:therapy
chemical_list: D000319:Adrenergic beta-Antagonists; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D051657:KCNQ1 Potassium Channel; D004247:DNA
keywords: adrenergic; arrhythmias; beta-blockers; cardiac; defibrillators; implantable; long QT syndrome; pediatrics