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. 2012 Sep;23(3):167-73.
doi: 10.1007/s00399-012-0222-x. Epub 2012 Sep 20.

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Nicole J Boczek  1 , David J Tester, Michael J Ackerman
Affiliations

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

Nicole J Boczek et al. Herzschrittmacherther Elektrophysiol. 2012 Sep.

Abstract

Annually thousands of sudden deaths involving young individuals (<35 years of age) remain unexplained following a complete medicolegal investigation that includes an autopsy. In fact, epidemiological studies have estimated that over half of sudden deaths involving previously healthy young individuals have no morphological 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), leave no evidence to be found at autopsy, leaving investigators to only 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 the use of a cardiological and genetic evaluation of first- or second-degree relatives and/or a molecular autopsy, may pinpoint the underlying mechanism attributing to the sudden death and allow for the identification of living family members with the pathogenic substrate that renders them vulnerable to an increased risk for cardiac events, including sudden death.

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Conflict of interest statement

Conflict of interest. On behalf of all authors, the corresponding author states the following: M.J.A. is a consultant for Biotronik, Boston Scientific, Medtronic, St. Jude Medical, Inc., and Transgenomic. Intellectual property derived from M.J.A.’s 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). N.J.B. and D.J.T. have no conflicts to disclose.

Figures

Fig. 1
Fig. 1
The prevalence of autopsy-negative “structurally normal” heart sudden unexplained death in retrospective autopsy series. It is estimated that at least 3 % and perhaps as much as 53 % of sudden deaths involving previously healthy children, adolescents, and young adults have no identifiable morphologic abnormalities found at autopsy (“structurally normal heart”), and the SCD is labeled as autopsy-negative sudden unexplained death (SUD). Shown is a bar graph with the percent of autopsy-negative “structurally normal heart” identified during ten retrospective analyses of large population-based autopsy cohorts [33]
Fig 2
Fig 2
Multidisciplinary approach to the evaluation of sudden unexplained death (SUD). The evaluation of SUD should be an interdisciplinary collaboration between an expert pathologist/medical examiner/coroner, cardiologist, and colleagues equipped with expertise in genetic counseling, ideally a cardiogenetic counselor
See this image and copyright information in PMC

References

    1. Ackerman M. State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young. Pacing Clinical Electrophysiol. 2009;32(Suppl 2):S86–S89. - PMC - PubMed
    1. Ackerman M, Priori S, Willems S, et al. HRS/ EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) Heart Rhythm. 2011;8:1308–1339. - PubMed
    1. Basso C, Burke M, Fornes P, et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Archiv. 2008;452:11–18. - PubMed
    1. Basso C, Carturan E, Pilichou K, et al. Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol. 2010;19:321–325. - PubMed
    1. Behr E, Dalageorgou C, Christiansen M, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29:1670–1680. - PubMed