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The Molecular Autopsy: Should the Evaluation Continue After the Funeral?

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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 medicolegal 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 pathologists 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.

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Disclosures

Michael J. Ackerman is a consultant for Biotronik, Boston Scientific, Medtronic, St. Jude Medical, Inc., and Transgenomic. Intellectual property derived from his research program resulted in license agreements in 2004 between Mayo Clinic Health Solutions (formerly Mayo Medical Ventures) and PGxHealth (formerly Genaissance Pharmaceuticals, now recently acquired by Transgenomic). David J. Tester has no conflicts of interest or financial ties to disclose.

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Authors and Affiliations

  1. Division of Cardiovascular Diseases, Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Guggenheim 501, Rochester, MN, USA

    David J. Tester & Michael J. Ackerman

  2. Division of Pediatric Cardiology, Department of Pediatrics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA

    David J. Tester & Michael J. Ackerman

  3. Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA

    David J. Tester & Michael J. Ackerman

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  1. David J. Tester
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Tester, D.J., Ackerman, M.J. The Molecular Autopsy: Should the Evaluation Continue After the Funeral?. Pediatr Cardiol 33, 461–470 (2012). https://doi.org/10.1007/s00246-012-0160-8

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