Role of molecular analysis after autopsy negative sudden death in the young

Research output: Contribution to journalArticle

Abstract

Sudden death is a rare event, particularly in the young. A traditional comprehensive autopsy often reveals diseases that were not recognized prior to death. For a significant proportion of sudden deaths in the young, there is no clear etiology following autopsy. These unexplained sudden deaths are often secondary to primary arrhythmogenic diseases, where there is a defect in the structure or function of the channels that regulate the ion movement responsible for the electrical activation of the heart. As a group, these diseases are known as channelopathies. Channelopathies are often secondary to genetic mutations which may be inherited and place surviving relatives at risk. While these conditions cannot be detected by the traditional comprehensive autopsy, there is increasing evidence that they may be detected by molecular genetic analysis using blood or tissue from the deceased individual. There is no conclusive evidence to show the benefit of systematic screening for channelopathies in sudden unexplained death; however, there is increasing circumstantial evidence supporting the practice. There is currently insufficient infrastructure for the systematic implementation of such a screening program, including insufficient financial resources. While no clear legal obligation exists, there is a moral obligation to inform surviving family members of their potential risk. Strong consideration should be given to augmenting the traditional autopsy with a molecular analysis in the presence of unexplained sudden death in the young.

Original languageEnglish (US)
Pages (from-to)175-178
Number of pages4
JournalCurrent Pediatric Reviews
Volume9
Issue number2
DOIs
StatePublished - Aug 20 2013

Keywords

  • Autopsy
  • Channelopathy
  • Genetic
  • Sudden infant death syndrome
  • Sudden unexplained death syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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