title: Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach.
abstract: OBJECTIVE
  To investigate the yield of cardiogenetic screening of relatives of young sudden cardiac death (SCD) and sudden unexplained death (SUD) victims in a population-based setting.
  
  
  RESULTS
  A population-based study was carried out between 2000 and 2006. Records of the hospital, death declaration certificates, and resuscitation records were reviewed for SCD and SUD cases (1-40 years). Information on autopsy results and cardiogenetic screening of the victims' first-degree relatives was collected. Relatives were invited for additional cardiogenetic screening when this had not yet been performed. The search led to 16 cases of SCD/SUD and 4 cases of aborted SCD/SUD. Causes of SCD/SUD were myocardial infarction (n = 3), arrhythmogenic right ventricular cardiomyopathy (ARVC) (n = 2), long-QT syndrome (n = 1), hypertrophic cardiomyopathy (n = 2), left ventricular hypertrophy due to aortic stenosis (n = 1), and unknown cause of death (n = 7). Causes of aborted SCD/SUD were myocardial infarction (n = 2), idiopatic ventricular fibrillation (n = 1), and the Brugada syndrome (n = 1). The cardiogenetic screening of 37 relatives of 12 victims led to a diagnosis of Brugada syndrome in 3 relatives and the suspicion of ARVC in 2 relatives. The yield of screening of these relatives was 14% (95% confidence interval: 3-25%).
  
  
  CONCLUSIONS
  In the usual care, relatives of (aborted) SCD and SUD victims are often not referred for cardiogenetic screening. Screening is often not performed according to a systematic approach, and the detection rate of inherited diseases in relatives of (aborted) SCD and SUD victims in a population-based setting, although substantial, is lower than expected based on previous studies.
authors.affiliation: Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands. a.hendrix@umcutrecht.nl
authors.forename: Anneke
authors.initials: A
authors.lastname: Hendrix
authors.forename: C Jan Willem
authors.initials: CJ
authors.lastname: Borleffs
authors.forename: Aryan
authors.initials: A
authors.lastname: Vink
authors.forename: Pieter A F M
authors.initials: PA
authors.lastname: Doevendans
authors.forename: Arthur A
authors.initials: AA
authors.lastname: Wilde
authors.forename: Irene M
authors.initials: IM
authors.lastname: van Langen
authors.forename: Jasper J
authors.initials: JJ
authors.lastname: van der Smagt
authors.forename: Michiel L
authors.initials: ML
authors.lastname: Bots
authors.forename: Arend
authors.initials: A
authors.lastname: Mosterd
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000401:mortality; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics / Q000401:mortality; D006332:Cardiomegaly / Q000235:genetics / Q000401:mortality; D053447:Channelopathies / Q000235:genetics / Q000401:mortality; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000453:epidemiology* / Q000517:prevention & control*; D005190:Family; D005260:Female; D005820:Genetic Testing; D006331:Heart Diseases / Q000235:genetics* / Q000401:mortality*; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics / Q000401:mortality; D008297:Male; D009203:Myocardial Infarction / Q000235:genetics / Q000401:mortality; D055815:Young Adult