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• W2056337557 abstract "HomeCirculation: Arrhythmia and ElectrophysiologyVol. 7, No. 6Modern Approach to the Sudden Unexpected Death Investigation Free AccessEditorialPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessEditorialPDF/EPUBModern Approach to the Sudden Unexpected Death Investigation Susan P. Etheridge, MD and Elizabeth V. Saarel, MD Susan P. EtheridgeSusan P. Etheridge From the Division of Pediatric Cardiology, Department of Pediatrics, Primary Children’s Hospital and University of Utah, Salt Lake City. Search for more papers by this author and Elizabeth V. SaarelElizabeth V. Saarel From the Division of Pediatric Cardiology, Department of Pediatrics, Primary Children’s Hospital and University of Utah, Salt Lake City. Search for more papers by this author Originally published1 Dec 2014https://doi.org/10.1161/CIRCEP.114.002396Circulation: Arrhythmia and Electrophysiology. 2014;7:1003–1005The death of young people, regardless of the cause, is devastating, and its effect on families and society is tragic and incalculable. No good can come from this tragedy. Or can it? Prevention of sudden unexplained death (SUD) in the young may be achievable but remains a challenge because the majority of deaths occur without prior symptoms or a family history of sudden death1 or at least without recognition of these symptoms and their connection to sudden death. Although we hotly debate the issue of electrocardiographic screening in the young, we cannot miss the high-yield screening opportunities that occur as a consequence of the tragedy of young people’s sudden death. We must approach each of these deaths with an investigative mindset and the availability of resources that one would approach a criminal investigation. We must track down the killer and make sure it does not kill again.Article see p 1078Sudden death in the young (<35 years) in the absence of a definable cause by routine autopsy has been the focus of considerable attention in the cardiology community. We need to engage the forensic medicine community in this issue to ascertain the cause of sudden death. An example of such a collaboration between pathologists and a multidisciplinary cardiogenetics team resulted in the article published in this issue.1 Mellor et al1 report on an impressive collection of 2156 cases of sudden cardiac death in the United Kingdom. Cases were referred to the unique Cardiac Risk in the Young Centre for Cardiac Pathology at the Royal Brompton Hospital and St. George’s University. In an unprecedented 16-year-long study, 474 (49%) whole hearts and 493 (51%) cardiac histological specimens were examined by a single cardiac pathologist before classified as autopsy-negative. The purpose was to increase the understanding of the cardiac causes of sudden death when the initial autopsy was negative. In doing this, the authors uncovered some surprises.The first surprise was that autopsy-negative sudden death is common, more common than once thought. Previous data suggest that 10% to 30% of sudden death in the young is autopsy-negative.2–4 But, Mellor et al1 report that 45% of the cases they studied had a normal autopsy, including 10 infants <1 year. The authors chose to remove this subset from the study cohort because of the likelihood that their deaths were from sudden infant death syndrome, but acknowledged that 10% to 15% of deaths from sudden infant death syndrome are likely because of channelopathies. Future studies should not exclude this patient population because the identification of a channelopathic condition in a sudden infant death syndrome victim has potential importance for the rest of the family.In the United States, the death investigation, a set of investigative tasks that should be performed at every death scene, is defined by the US Department of Justice and does not require an autopsy.5 The local investigators decide whether a postmortem examination is needed, and according to a report by the National Academy of Science, the decision to refer a case for autopsy is largely budget driven.6 Even when an autopsy is undertaken, not all postmortem examinations are equal.7 Recognizing that pathologists and forensic medicine specialists have not given SUD the attention it deserves and that there are inconsistencies and inadequate investigations of this problem, published guidelines have been established in Europe8 and New Zealand and Australia.9 We could find no such guidelines for the use in the United States, yet. But we have hope. The National Institutes of Health and Centers for Disease Control and Prevention have turned their considerable resources to this problem as they launch a registry for sudden death in the young. By tracking unexpected deaths in the young and examining findings from death scene investigations, autopsies, and medical records, they hope to develop and implement standardized SUD investigations, autopsy protocols, and case definitions.Yet, even with a standardized and thoughtful approach to the autopsy as undertaken in this article, almost half of SUDs are still without an identifiable cause. The autopsies in the present article were likely undertaken based on the European guidelines because one recognizes shared authorship. Although both sets of guidelines call for a standardized postmortem, they also emphasize that the negative autopsy is not the end of the story but the beginning of a new investigation. The guidelines from the European Union8 and New Zealand and Australia9 include a protocol not only for the examination of the heart but also for DNA examination of tissue or blood for a molecular autopsy and even address the postautopsy period and the referral of the family to an experienced adult or pediatric electrophysiologist or multidisciplinary team.What does the present US death investigation look like? Our death investigation system involves a complicated patchwork, medical examiners, coroners, and in some cases, a hybrid mixture. Although there has been a trend to replace the elected lay coroner systems with physician medical examiners, this shift was rapidly moving from 1960 to 1980 and then slowed considerably.10 Is there really still a place for a coroner? The role of a coroner dates back to England in the 12th century established under King Richard I, partly to fund the expensive crusades. Crowners, as they were known, conducted inquests on behalf of the king to identify the deceased and investigate how they died, but more importantly, to collect death taxes on their estates. The coroner system was introduced to the colonies by early settlers. More than 2000 coroner offices across the United States today are vestiges of this system. Individual state statutes dictate whether death investigations, which include examining the scene, reviewing medical records, performing autopsies, and determining the manner and cause of death, are conducted by a coroner or a medical examiner. As opposed to coroners, most medical examiner systems operate under the direction of a licensed physician, trained in pathology and forensic science and who brings the body of knowledge of medicine when determining a cause of death. A report from the National Academy of Science recommends abolishing the coroner systems and replacing them with offices run by medical examiners.6 In the United States, today the coroner is an elected official whose qualifications include citizenship and residence but no requirement for medical training. Medical examiners are appointed officers whose qualifications include a medical degree, with training and certification in forensic pathology. The coroners or medical examiners are an important part of the unraveling of the cause of sudden death, with possibly the first and last exposure to the families of the SUD victims. They must have the background and knowledge to understand the importance of establishing a diagnosis, including indications for molecular autopsy, and the awareness to recognize when the clinical study of the family is necessary for determining the cause of death and preventing future deaths.We have >10 years of data to support a change in the management of sudden death and the extension of a standard autopsy to include a molecular autopsy.11 Sudden death in the young is the result of an inherited cardiac disease in a significant number of cases, ≤35% in some series.11 To paraphrase a previous editorial, because one third of these cases are genetic, it is no longer justifiable to ignore genotyping in these victims of sudden death.12 The molecular autopsy has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including congenital long-QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. A genetic mutation identified in the deceased and thought to be causative allows for directed genetic testing in the surviving family members, decreasing the shotgun approach and its consequences, the identification of variants of unknown significance and possibly no significance related to the death and for the family. Molecular genetic testing can occur at the time of death or even years later if samples are properly collected and stored. Because research identifies more genes implicated in sudden death, we can apply this knowledge to the undiagnosed deceased and their living family. For this reason, appropriate sampling and storage are crucial in the anticipation of future technical progress in molecular biology and the overall understanding of the genetic origin of many diseases. Because of the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counseling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. Identifying the living relatives and making them understand the importance of their personal assessment for their own protection and their role in understanding the recent death are challenges at a challenging time for the family. This task must become a standard part of the investigation of young people who have died suddenly. Provisional autopsy results must be communicated to the family early and referrals to the appropriate, preferably multidisciplinary clinic must proceed in a timely manner. We feel that the multidisciplinary approach best addresses the clinical and genetic investigation of inherited arrhythmias and the psychosocial consequences of a genetic diagnosis. These conditions are most often inherited in an autosomal dominant manner and thus relatives of the deceased are at risk for the same demise.Although not morally comparable, a comparison can be made with another tragic sudden death, murder. We, society and taxpayers, spend a staggering amount of money investigating murders and preventing murderers from killing again. DeLisi et al13 estimated that the cost of a murder exceeded 10 million dollars and the average offender imposed 426 000 dollars in criminal justice system costs, investigation, legal defense, incarceration, and parole. Insuring the criminal will not murder again is in the best interest of society. But, interestingly, “individuals released on parole after serving sentences for murder consistently have the lowest recidivism rate of any offenders” (John Caher, spokesman for the New York State Division of Criminal Justice Services). A 2002 study by the US Bureau of Justice Statistics tracking 272 000 released inmates found that only 1.2% of those freed after serving a murder sentence were rearrested for homicide.14 Inherited cardiac conditions that result in SUD are far more likely to kill again.Another surprising fact uncovered by Mellor et al1 in their investigation of the circumstances of death in their cohort was that in most cases, death occurred during rest or sleep. Only 13% of deaths occurred with exercise. If this is universally applicable, our current focus on screening the athlete in attempts to decrease sudden death is shortsighted. Perhaps we should increase our focus on patients with epilepsy. In this study, 6.6% of sudden death victims had a history of epilepsy, more than with a history of syncope or a family history of sudden death. Everyone who cares for these patients can remember that a substantial number of patients with long-QT syndrome and catecholaminergic polymorphic ventricular tachycardia were misdiagnosed and treated for a seizure disorder, and even Brugada syndrome that can masquerade as a febrile seizure.15 However, the lack of those with a history of syncope and without a family history of sudden death may reflect an inadequacy in death investigation data collection. Although it is potentially easy to identify patients with seizure disorders because they are on medications and because seizures are such dramatic events, it may be more difficult to uncover a previous benign faint. Furthermore, it is not sufficient to merely ask “did anyone in your family ever die suddenly?” One must be far more granular and ask about each of the deceased’s family members, first-degree relatives, grandparents, aunts, uncles, and cousins. One must extend the question beyond sudden death to drowning, unusual accidents, sudden infant death syndrome, and fetal demise. This is time consuming and perhaps not done best if left in the hands of a nonmedical coroner or an overtaxed medical examiner.A final surprise uncovered in this article was that despite the presence of a cardiogenetics clinic for family assessment of sudden death victims, with a goal to assess as many first-degree relatives as possible, they were referred only 161 relatives of only 44 cases (<5%). The authors should be commended on having integrated a cardiogenetics team in their family assessment. Importantly, they identified that one quarter of those evaluated had an inherited cardiac condition, including 39% with Brugada syndrome. This is interesting in light of the fact that death during sleep occurred in about one quarter of the entire cohort of sudden death victims.1Independent of its cause, the death of a young individual is tragic for those left behind. When the death is sudden and unexplained, the grief is much more inconsolable. The role of all the involved medical practitioners should be revised to make this tragedy easier for families, to prevent additional deaths in surviving family members, and in the interest of public health. A thorough autopsy is essential and requires a standardized approach and possibly referral to a specialized center and must incorporate the molecular autopsy when applicable. In the United States, we need modern guidelines on postmortem genetic testing and transmission of the results to the family members for cases of SUD in the young. Appropriate handling of SUD requires a multidisciplinary collaboration, a skilled pathologist performing the autopsy, a clinical geneticist, and a medical team who evaluate the available clinical data from the deceased and their family and assess the risk of further sudden death. We need this modern approach to cases of SUD in the young to prevent genetic killers from striking again.DisclosuresNone.FootnotesThe opinions expressed in this article are not necessarily those of the editors or of the American Heart Association.Correspondence to Susan P. Etheridge, MD, Primary Children’s Hospital, 81 N Mario Capecchi Dr, Salt Lake City, UT 84113. E-mail [email protected]References1. Mellor G, Raju H, de Noronha SV, Papadakis M, Sharma S, Behr ER, Sheppard MN. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome.Circ Arrhythm Electrophysiol. 2014; 7:1078–1083.LinkGoogle Scholar2. Morentin B, Suárez-Mier MP, Aguilera B. Sudden unexplained death among persons 1–35 years old.Forensic Sci Int. 2003; 135:213–217.CrossrefMedlineGoogle Scholar3. Puranik R, Chow CK, Duflou JA, Kilborn MJ, McGuire MA. Sudden death in the young.Heart Rhythm. 2005; 2:1277–1282. doi: 10.1016/j.hrthm.2005.09.008.CrossrefMedlineGoogle Scholar4. Eckart RE, Scoville SL, Campbell CL, Shry EA, Stajduhar KC, Potter RN, Pearse LA, Virmani R. Sudden death in the young: a 25-year review of autopsies in military recruits.Ann Intern Med. 2004; 141:829–834.CrossrefMedlineGoogle Scholar5. United States Department of Justice. Death investigation: a guide for the scene investigator 2011.https://ncjrs.gov/pdffiles1/nij/234457.pdf. Accessed October 25, 2014.Google Scholar6. Committee on Identifying the Needs of the Forensic Sciences Community, National Research Council. Medical examiner and coroner systems: current and future needs.In: Strengthening Forensic Science in the United States: A Path Forward. Washington, DC: The National Academies Press; 2009:241–250.Google Scholar7. Carter-Monroe N, Virimani R. Current trends in the classification of sudden cardiac death based on autopsy derived data: a review of investigations into the etiology of sudden death.Rev Esp Cardi. 2011; 64:10–12.CrossrefMedlineGoogle Scholar8. Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A; Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death.Virchows Arch. 2008; 452:11–18. doi: 10.1007/s00428-007-0505-5.CrossrefMedlineGoogle Scholar9. Skinner JR, Duflou JA, Semsarian C. Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative.Med J Aust. 2008; 189:539–540.CrossrefMedlineGoogle Scholar10. Hanzlick R. Am J Foren Med Path. 2007; 28:279–283.CrossrefMedlineGoogle Scholar11. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.J Am Coll Cardiol. 2007; 49:240–246. doi: 10.1016/j.jacc.2006.10.010.CrossrefMedlineGoogle Scholar12. Schwartz PJ, Crotti L. Can a message from the dead save lives?J Am Coll Cardiol. 2007; 49:247–249. doi: 10.1016/j.jacc.2006.10.009.CrossrefMedlineGoogle Scholar13. DeLisi M, Kosloski A, Sween M, Hachmeister E, Moore M, Drury A. Murder by numbers: monetary costs imposed by a sample of homicide offenders.J Forensic Psychi Psychol. 2010. 21;501–513.CrossrefGoogle Scholar14. Harrison PM, Beck AJ. Bureau of Justice statistics bulletin: prisoners in 2002. NCJ2003. http://www.bjs.gov/index.cfm?ty=pbdetail&iid=1118.Google Scholar15. Skinner JR, Chung SK, Nel CA, Shelling AN, Crawford JR, McKenzie N, Pinnock R, French JK, Rees MI. Brugada syndrome masquerading as febrile seizures.Pediatrics. 2007; 119:e1206–e1211. doi: 10.1542/peds.2006-2628.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Viljoen R, Reid K, Mole C, Rangwaga M and Heathfield L (2022) Towards molecular autopsies: Development of a FFPE tissue DNA extraction workflow, Science & Justice, 10.1016/j.scijus.2021.12.005, 62:2, (137-144), Online publication date: 1-Mar-2022. December 2014Vol 7, Issue 6 Advertisement Article InformationMetrics © 2014 American Heart Association, Inc.https://doi.org/10.1161/CIRCEP.114.002396PMID: 25516576 Originally publishedDecember 1, 2014 Keywordscardiac arrhythmiacatecholaminergic polymorphic ventricular tachycardiaEditorialslong QT syndromesudden cardiac deathPDF download Advertisement SubjectsArrhythmias" @default.
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