title: Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population.
abstract: BACKGROUND
  The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health among these individuals. The study compared health status among patients at risk of arrhythmia because of family history or clinical diagnosis of LQTS and HCM with reference health status scores of the general population.
  
  
  METHODS
  In the period 2005-2007, 127 patients (mean age 45 years, 53.5% women), with a family history of arrhythmia (n = 95) or a clinical diagnosis of LQTS (n = 12) or HCM (n = 19) referred for genetic counselling at the medical genetic departments in Norway filled in a questionnaire (Short Form Health Survey SF-36) measuring health status on eight domains. The patient SF-36 scores were compared to expected scores of the general population by t-test, and the relationship between the socio-demographic variables, clinical status, and SF-36 domains were analysed by multiple linear regression.
  
  
  RESULTS
  The total sample reported significant lower SF-36 score as compared to the general population scores for the domain of general health (mean difference -7.3 (<0.001). When analysing the sample in subgroups according to clinical status, the general health was still significant lower for the group of family risk and in the group of HCM. In addition the physical functioning, role physical, vitality and role emotional domains were reduced for the latter group. In general, employment, higher education and being referred to genetic counselling through a family member were associated with better scores on the health status domains.
  
  
  CONCLUSIONS
  Having a genetic risk of arrhythmia affects general health significantly. In addition, patients with a clinical diagnosis of HCM demonstrate a significantly poorer health in both physical and mental domains.
authors.affiliation: Genetic Epidemiology Research Group, Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway. anniken.hamang@isf.uib.no
authors.forename: Anniken
authors.initials: A
authors.lastname: Hamang
authors.forename: Geir Egil
authors.initials: GE
authors.lastname: Eide
authors.forename: Karin
authors.initials: K
authors.lastname: Nordin
authors.forename: Berit
authors.initials: B
authors.lastname: Rokne
authors.forename: Cathrine
authors.initials: C
authors.lastname: Bjorvatn
authors.forename: Nina
authors.initials: N
authors.lastname: Øyen
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D016757:Death, Sudden, Cardiac; D003710:Demography; D005260:Female; D005817:Genetic Counseling; D006304:Health Status; D006801:Humans; D016014:Linear Models; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D011795:Surveys and Questionnaires