title: Novel KCNQ1 mutations in patients after myocardial infarction.
abstract: BACKGROUND
  Patients after myocardial infarction (MI) are at greater risk of sudden cardiac death (SCD) than people in the overall population. The aim of this study was to detect mutations, including intronic ones, in the KCNQ1 gene coding for proteins of cardiac potassium channels and evaluate their possible effects on the clinical course in patients after MI.
  
  
  METHODS
  The study group was composed of 100 Polish patients after MI, which included 27 women (mean age 69 years) and 73 men (mean age 67 years). All patients underwent clinical examinations and genetic tests. The genetic test results have been correlated with the clinical data. The following parameters have been chosen as endpoints for this survey: sudden cardiac arrest (SCA) or SCD, complex ventricular arrhythmia, QT interval and QT dispersion values assessed during 24-hour Holter ECG monitoring in relation to ventricular arrhythmias as well as the minimum and maximum heart rate (HR) observed during the examination.
  
  
  RESULTS
  Six new mutations in the KCNQ1 gene: C2505734T, A2753831C in exons and C2505846A, G2753881A, T2755854C, T2755875G in introns. Detected intronic mutations in patients after MI were related to a worse clinical course and frequent occurrence of SCA.
  
  
  CONCLUSIONS
  The novel intronic mutations may have a significant influence on the clinical course of the disease.
authors.affiliation: Department of Cardiology, Military Institute of Health Service, Warsaw, Poland. meridiap@interia.pl
authors.forename: Marlena
authors.initials: M
authors.lastname: Olszak-Waśkiewicz
authors.forename: Mirosław
authors.initials: M
authors.lastname: Dziuk
authors.forename: Leszek
authors.initials: L
authors.lastname: Kubik
authors.forename: Radosław
authors.initials: R
authors.lastname: Kaczanowski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Kucharczyk
mesh_terms: D000368:Aged; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D016757:Death, Sudden, Cardiac; D005260:Female; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation; D009203:Myocardial Infarction / Q000235:genetics*
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human