Molecular autopsy of sudden unexplained death in the young

Michael J. Ackerman, David J. Tester, David J. Driscoll

Research output: Contribution to journalArticle

109 Scopus citations

Abstract

Sudden unexplained death (SUD) claims over 4000 persons between the age of 1 and 22 each year in the United States. Nearly half of all pediatric SUD cases have a normal structural autopsy evaluation and are dismissed without a diagnosis. With the discovery of the genetic basis for potentially fatal arrhythmias associated with the inherited long QT syndrome (LQTS), postmortem molecular diagnosis of this disorder is possible. The authors describe the results of a molecular autopsy performed on a 17-year-old boy found dead in bed. A novel clinical test involving an epinephrine challenge in the decedent's mother implicated a potential defect in the phase 3 potassium current encoded by the gene KVLQTl. Exonspecific amplification by polymerase chain reaction and direct DNA sequencing of KVLQTl revealed a 5-base pair deletion in the genetic material recovered from the decedent's paraffin-embedded heart tissue. The ability to perform molecular autopsies on archived necropsy material undoubtedly will transform the forensic evaluation of SUD. The combination of catecholamine provocation testing in survivors and a postmortem LQTS gene analysis may unmask families with "concealed" LQTS and establish the cause and manner of death in SUDS.

Original languageEnglish (US)
Pages (from-to)105-111
Number of pages7
JournalAmerican Journal of Forensic Medicine and Pathology
Volume22
Issue number2
DOIs
StatePublished - Jun 11 2001

Keywords

  • Arrhythmia
  • Ion channels
  • Long QT syndrome
  • Molecular autopsy
  • Sudden unexplained death syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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