title: Sudden arrhythmic death syndrome: diagnostic yield of comprehensive clinical evaluation of pediatric first-degree relatives.
abstract: OBJECTIVE
  Sudden arrhythmic death syndrome (SADS) is most often caused by heritable cardiac diseases. Studies in adults have identified evidence of inherited cardiovascular diseases in up to 53% of families, but data on the prevalence of familial disease in children are scarce. The aim of this study was to evaluate the yield of clinical screening in pediatric first-degree relatives of victims of SADS using a systematic and comprehensive protocol.
  
  
  METHODS
  Patients referred for family screening after sudden cardiac death (SCD) of a family member were, retrospectively, enrolled into the study. Systematic evaluation of the children included clinical examination, family history, electrocardiogram (ECG), echocardiogram, 24-hour tape, and signal-averaged ECG. Older patients also underwent exercise testing, cardiac magnetic resonance imaging, and ajmaline provocation testing.
  
  
  RESULTS
  A total of 90 children from 52 consecutive families were included in the study. An inherited cardiac disease was identified in seven first-degree children from seven (13.5%) families (five children were diagnosed with Brugada syndrome, one with long QT syndrome, and one with catecholaminergic polymorphic ventricular tachycardia). Two further children had late potentials on signal-averaged ECGs with no other abnormalities.
  
  
  CONCLUSIONS
  These data show a high prevalence of inherited heart disease in pediatric first-degree relatives of SADS victims. The results highlight the importance of a systematic, comprehensive approach and ongoing screening of pediatric family members.
authors.affiliation: Inherited Cardiovascular Diseases Unit, Department of Cardiology, Great Ormond Street Hospital, London, United Kingdom; Department of Paediatrics, Ospedale Luigi Sacco, University of Milan, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Giudici
authors.forename: Adriani
authors.initials: A
authors.lastname: Spanaki
authors.forename: Jennifer
authors.initials: J
authors.lastname: Hendry
authors.forename: Sarah
authors.initials: S
authors.lastname: Mead-Regan
authors.forename: Ella
authors.initials: E
authors.lastname: Field
authors.forename: Gian Vincenzo
authors.initials: GV
authors.lastname: Zuccotti
authors.forename: Dominic
authors.initials: D
authors.lastname: Abrams
authors.forename: Martin
authors.initials: M
authors.lastname: Lowe
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Kaski
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D005260:Female; D006331:Heart Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013577:Syndrome
keywords: Brugada syndrome; arrhythmia; long QT syndrome; pediatric; screening; sudden death