State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young

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Abstract

Background: Thousands of infants, children, adolescents, and young adults die sudden and unexpectedly each year in the United States. A significant proportion are autopsy negative and are classified as autopsy negative sudden unexplained death (SUD) after the first year of life and as sudden infant death syndrome (SIDS) if prior to their first birthday. Postmortem genetic testing known as the cardiac channel molecular autopsy is capable of identifying the subset of channelopathic SUD/SIDS. Methods: Review of the literature and analysis of the state of such postmortem genetic testing in the evaluation of SUD/SIDS. Results: Although still confined to anecdotal reports, relatively small case series of coroner/medical examiner-referred cases of SUD/SIDS, and one population-based cohort of SIDS, it is estimated that approximately 25-35% of autopsy-negative SUD and approximately 10% of SIDS may stem from mutations in either long QT syndrome (LQTS)- or catecholaminergic polymorphic ventricular tachycardia (CPVT)-susceptibility genes. Discussion: Whether the cardiac channel molecular autopsy should become the standard of care in the postmortem evaluation of autopsy negative SUD or SIDS will require further scrutiny. Cost effectiveness analyses of a more intense postmortem focus on the decedent compared to the current battery of tests recommended for the deceased SUD victim's first degree relatives should be performed. Conclusion: If deemed justified to upgrade such postmortem genetic testing from " investigational" to clinically indicated, uniform "standard operating procedures" to ensure that tissue is acquired and archived in a manner that is "DNA friendly" and insurance coverage that extends beyond one's final breath will be needed.

Original languageEnglish (US)
JournalPACE - Pacing and Clinical Electrophysiology
Volume32
Issue numberSUPPL. 2
DOIs
StatePublished - Jul 2009

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Sudden Infant Death
Sudden Cardiac Death
Genetic Testing
Sudden Death
Autopsy
Long QT Syndrome
Coroners and Medical Examiners
Insurance Coverage
Standard of Care
Cost-Benefit Analysis
Young Adult
Mutation
DNA
Population
Genes

Keywords

  • Channelopathies
  • Genetic testing
  • Ion channels
  • Long QT Syndrome
  • Sudden death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

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title = "State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young",
abstract = "Background: Thousands of infants, children, adolescents, and young adults die sudden and unexpectedly each year in the United States. A significant proportion are autopsy negative and are classified as autopsy negative sudden unexplained death (SUD) after the first year of life and as sudden infant death syndrome (SIDS) if prior to their first birthday. Postmortem genetic testing known as the cardiac channel molecular autopsy is capable of identifying the subset of channelopathic SUD/SIDS. Methods: Review of the literature and analysis of the state of such postmortem genetic testing in the evaluation of SUD/SIDS. Results: Although still confined to anecdotal reports, relatively small case series of coroner/medical examiner-referred cases of SUD/SIDS, and one population-based cohort of SIDS, it is estimated that approximately 25-35{\%} of autopsy-negative SUD and approximately 10{\%} of SIDS may stem from mutations in either long QT syndrome (LQTS)- or catecholaminergic polymorphic ventricular tachycardia (CPVT)-susceptibility genes. Discussion: Whether the cardiac channel molecular autopsy should become the standard of care in the postmortem evaluation of autopsy negative SUD or SIDS will require further scrutiny. Cost effectiveness analyses of a more intense postmortem focus on the decedent compared to the current battery of tests recommended for the deceased SUD victim's first degree relatives should be performed. Conclusion: If deemed justified to upgrade such postmortem genetic testing from {"} investigational{"} to clinically indicated, uniform {"}standard operating procedures{"} to ensure that tissue is acquired and archived in a manner that is {"}DNA friendly{"} and insurance coverage that extends beyond one's final breath will be needed.",
keywords = "Channelopathies, Genetic testing, Ion channels, Long QT Syndrome, Sudden death",
author = "Ackerman, {Michael John}",
year = "2009",
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doi = "10.1111/j.1540-8159.2009.02393.x",
language = "English (US)",
volume = "32",
journal = "PACE - Pacing and Clinical Electrophysiology",
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AU - Ackerman, Michael John

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N2 - Background: Thousands of infants, children, adolescents, and young adults die sudden and unexpectedly each year in the United States. A significant proportion are autopsy negative and are classified as autopsy negative sudden unexplained death (SUD) after the first year of life and as sudden infant death syndrome (SIDS) if prior to their first birthday. Postmortem genetic testing known as the cardiac channel molecular autopsy is capable of identifying the subset of channelopathic SUD/SIDS. Methods: Review of the literature and analysis of the state of such postmortem genetic testing in the evaluation of SUD/SIDS. Results: Although still confined to anecdotal reports, relatively small case series of coroner/medical examiner-referred cases of SUD/SIDS, and one population-based cohort of SIDS, it is estimated that approximately 25-35% of autopsy-negative SUD and approximately 10% of SIDS may stem from mutations in either long QT syndrome (LQTS)- or catecholaminergic polymorphic ventricular tachycardia (CPVT)-susceptibility genes. Discussion: Whether the cardiac channel molecular autopsy should become the standard of care in the postmortem evaluation of autopsy negative SUD or SIDS will require further scrutiny. Cost effectiveness analyses of a more intense postmortem focus on the decedent compared to the current battery of tests recommended for the deceased SUD victim's first degree relatives should be performed. Conclusion: If deemed justified to upgrade such postmortem genetic testing from " investigational" to clinically indicated, uniform "standard operating procedures" to ensure that tissue is acquired and archived in a manner that is "DNA friendly" and insurance coverage that extends beyond one's final breath will be needed.

AB - Background: Thousands of infants, children, adolescents, and young adults die sudden and unexpectedly each year in the United States. A significant proportion are autopsy negative and are classified as autopsy negative sudden unexplained death (SUD) after the first year of life and as sudden infant death syndrome (SIDS) if prior to their first birthday. Postmortem genetic testing known as the cardiac channel molecular autopsy is capable of identifying the subset of channelopathic SUD/SIDS. Methods: Review of the literature and analysis of the state of such postmortem genetic testing in the evaluation of SUD/SIDS. Results: Although still confined to anecdotal reports, relatively small case series of coroner/medical examiner-referred cases of SUD/SIDS, and one population-based cohort of SIDS, it is estimated that approximately 25-35% of autopsy-negative SUD and approximately 10% of SIDS may stem from mutations in either long QT syndrome (LQTS)- or catecholaminergic polymorphic ventricular tachycardia (CPVT)-susceptibility genes. Discussion: Whether the cardiac channel molecular autopsy should become the standard of care in the postmortem evaluation of autopsy negative SUD or SIDS will require further scrutiny. Cost effectiveness analyses of a more intense postmortem focus on the decedent compared to the current battery of tests recommended for the deceased SUD victim's first degree relatives should be performed. Conclusion: If deemed justified to upgrade such postmortem genetic testing from " investigational" to clinically indicated, uniform "standard operating procedures" to ensure that tissue is acquired and archived in a manner that is "DNA friendly" and insurance coverage that extends beyond one's final breath will be needed.

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