title: Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.
abstract: BACKGROUND
  Sudden arrhythmic death syndrome defines a sudden unexpected and unexplained death despite comprehensive pathological and toxicological investigation. Previous studies have focused on evaluation of adult relatives. There is, however, a lack of data in children, leading to highly variable management. We sought to determine the clinical utility of cardiac evaluation in pediatric relatives of sudden arrhythmic death syndrome probands.
  
  
  RESULTS
  Retrospective review was undertaken of pediatric patients with a family history of sudden arrhythmic death syndrome assessed from 2010 to 2013 in 2 centers. Clinical history, cardiac, and genetic investigations were assessed, including diagnoses made after evaluation of adult relatives. A total of 112 pediatric relatives from 61 families were evaluated (median age at presentation, 8 years; range, 0.5-16 years). A probable diagnosis was made in 18 (29.5%) families: Brugada syndrome, 13/18 (72%); long QT syndrome, 3/18 (17%); and catecholaminergic polymorphic ventricular tachycardia, 2/18 (11%). Genetic testing identified mutations in 20% of Brugada syndrome (2/10) and 50% of long QT syndrome (1/2) and catecholaminergic polymorphic ventricular tachycardia families (1/2) who were tested. Pediatric evaluation diagnosed 6/112 relatives (5.4%), increasing to 7% (6/85) if only first-degree relatives were assessed. The only useful diagnostic tests were the 12-lead and exercise electrocardiograms and ajmaline provocation test. The median duration of follow-up was 2.1 years (range, 0.2-8.2 years) with no cardiac events.
  
  
  CONCLUSIONS
  The yield of evaluating pediatric relatives is significant and higher when focused on first-degree relatives and on conditions usually expressed in childhood. We propose a management pathway for these children.
authors.affiliation: From the Cardiac and Cell Sciences Institute, St George's University of London, London, United Kingdom (L.C.H.W.,E.R.B.); and Department of Pediatric Cardiology, Royal Brompton Hospital, London, United Kingdom (F.R.-N., J.A.T.).
authors.forename: Leonie C H
authors.initials: LC
authors.lastname: Wong
authors.affiliation: From the Cardiac and Cell Sciences Institute, St George's University of London, London, United Kingdom (L.C.H.W.,E.R.B.); and Department of Pediatric Cardiology, Royal Brompton Hospital, London, United Kingdom (F.R.-N., J.A.T.).
authors.forename: Ferran
authors.initials: F
authors.lastname: Roses-Noguer
authors.affiliation: From the Cardiac and Cell Sciences Institute, St George's University of London, London, United Kingdom (L.C.H.W.,E.R.B.); and Department of Pediatric Cardiology, Royal Brompton Hospital, London, United Kingdom (F.R.-N., J.A.T.).
authors.forename: Janice A
authors.initials: JA
authors.lastname: Till
authors.affiliation: From the Cardiac and Cell Sciences Institute, St George's University of London, London, United Kingdom (L.C.H.W.,E.R.B.); and Department of Pediatric Cardiology, Royal Brompton Hospital, London, United Kingdom (F.R.-N., J.A.T.). ebehr@sgul.ac.uk.
authors.forename: Elijah R
authors.initials: ER
authors.lastname: Behr
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000404:Ajmaline; D000889:Anti-Arrhythmia Agents; D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008131:London; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012189:Retrospective Studies; D012307:Risk Factors; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000235:genetics / Q000401:mortality; D013997:Time Factors; D055815:Young Adult; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D000889:Anti-Arrhythmia Agents; D000404:Ajmaline
keywords: arrhythmias, cardiac; death, sudden, cardiac; diagnosis