title: Post-mortem genetic analysis in juvenile cases of sudden cardiac death.
abstract: The reason behind a sudden death of a young individual remains unknown in up to 50% of postmortem cases. Pathogenic mutations in genes encoding heart proteins are known to cause sudden cardiac death.
  
  
  
  The aim of our study was to ascertain whether genetic alterations could provide an explanation for sudden cardiac death in a juvenile cohort with no-conclusive cause of death after comprehensive autopsy.
  
  
  
  Twenty-nine cases <15 years showing no-conclusive cause of death after a complete autopsy were studied. Genetic analysis of 7 main genes associated with sudden cardiac death was performed using Sanger technology in low quality DNA cases, while in good quality cases the analysis of 55 genes associated with sudden cardiac death was performed using Next Generation Sequencing technology.
  
  
  
  Thirty-five genetic variants were identified in 12 cases (41.37%). Ten genetic/variants in genes encoding cardiac ion channels were identified in 8 cases (27.58%). We also identified 9 cases (31.03%) carrying 25 genetic variants in genes encoding structural cardiac proteins. Nine cases carried more than one genetic variation, 5 of them combining structural and non-structural genes.
  
  
  
  Our study supports the inclusion of molecular autopsy in forensic routine protocols when no conclusive cause of death is identified. Around 40% of sudden cardiac death young cases carry a genetic variant that could provide an explanation for the cause of death. Because relatives could be at risk of sudden cardiac death, our data reinforce their need of clinical assessment and, if indicated, of genetic analysis.
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain. Electronic address: oscar@brugada.org.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Olallo
authors.initials: O
authors.lastname: Sanchez-Molero
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Catarina
authors.initials: C
authors.lastname: Allegue
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Monica
authors.initials: M
authors.lastname: Coll
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Mademont-Soler
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Elisabet
authors.initials: E
authors.lastname: Selga
authors.affiliation: Gendiag SL, Barcelona, Spain.
authors.forename: Carles
authors.initials: C
authors.lastname: Ferrer-Costa
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Jesus
authors.initials: J
authors.lastname: Mates
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Cesar
authors.affiliation: Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.affiliation: Institut de Medicina Legal de Catalunya (IMLC), Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Castellà
authors.affiliation: Institut de Medicina Legal de Catalunya (IMLC), Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Medallo
authors.affiliation: Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D005260:Female; D053803:Forensic Genetics; D005820:Genetic Testing; D014644:Genetic Variation; D006331:Heart Diseases / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA
keywords: Adolescent; Forensics; Genetics; Next Generation Sequencing; Paediatric; Sudden cardiac death