The molecular autopsy: Should the evaluation continue after the funeral?

David J. Tester, Michael J. Ackerman

Research output: Contribution to journalReview articlepeer-review

67 Scopus citations

Abstract

Sudden cardiac death (SCD) is one of the most common causes of death in developed countries, with most SCDs involving the elderly, and structural heart disease evident at autopsy. Each year, however, thousands of sudden deaths involving individuals younger than 35 years of age remain unexplained after a comprehensive medi-colegal investigation that includes an autopsy. In fact, several epidemiologic studies have estimated that at least 3% and up to 53% of sudden deaths involving previously healthy children, adolescents, and young adults show no morphologic abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS) yield no evidence to be found at autopsy, leaving coroners, medical examiners, and forensic pathol-ogists only to speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation through either a cardiologic and genetic evaluation of first-or second-degree relatives or a molecular autopsy may elucidate the underlying mechanism contributing to the sudden death and allow for identification of living family members with the pathogenic substrate that renders them vulnerable, with an increased risk for cardiac events including syncope, cardiac arrest, and sudden death.

Original languageEnglish (US)
Pages (from-to)461-470
Number of pages10
JournalPediatric Cardiology
Volume33
Issue number3
DOIs
StatePublished - Mar 2012

Keywords

  • Brugada syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
  • Molecular autopsy
  • Sudden cardiac death
  • Sudden unexplained death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Fingerprint Dive into the research topics of 'The molecular autopsy: Should the evaluation continue after the funeral?'. Together they form a unique fingerprint.

Cite this