AETIOLOGY OF SUDDEN CARDIAC DEATH IN FORENSIC MEDICAL PRACTICE AND AND SELECTION OF CASES FOR POST-MORTEM GENETIC TESTING – 5 YEAR RETROSPECTIVE STUDY

  • Viktorija Belakaposka Srpanova Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Natasha Bitoljanu Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Ana Ivcheva Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Ljupcho Cakar Institute of Forensic Medicine and Criminology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Goran Pavlovski Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Aleksandar Stankov Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
  • Zlatko Jakovski Institute Forensic Medicine, Criminalistics and Medical Deontology, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia

Abstract

Sudden cardiac death (SCD) is a term used to describe death in a person who has no previously diagnosed heart disease, or is not expected to die at that stage of the disease. SCD is considered a major health problem in the world, accounting for 15-20% of all deaths, and the mechanism of its occurrence includes the development of ventricular tachycardia, which progresses to ventricular fibrillation and finally asystole. SCD is generally seen in the older population; however, a significant mortality rate is also observed in young people with hereditary heart pathology. The use of substances that can have an effect on cardiac function is associated with many cases of SCD, so toxicological substances should always be considered by forensic doctors and screening tests should always be performed. The aim of this research is to analyze the causes of sudden cardiac death and to select cases in which post-mortem genetic testing is indicated.  For this purpose, a review was made of the autopsies performed at the Institute of Forensic Medicine between 2018 and 2022, the biochemical and toxicological findings of the various causes of death were analyzed, and the cases where the exact cause of sudden cardiac death was not determined were also analyzed. In the analyzed period of 5 years, the cases with cardiomyopathy dominated, followed by coronary artery heart disease, and in 20 percent of the cases the exact cause of death was not determined. Men dominated with a percentage representation of 80%.


Keywords: Sudden cardiac death, Troponin I, toxicology, post-mortem genetic analysis.


https://doi.org/10.55302/JMS2361075bs


 

References

1. Lopshire JC, Zipes DP. Sudden cardiac death: Better understanding of risks, mechanisms, and treatment. Circulation. 2006;114(11):1134-1136. DOI: 10.1161/CIRCULATIONAHA. 106.647933.
2. Hayashi M, Shimizu W, Albert CM. The spectrum of epidemiology underlying sudden cardiac death. Circulation Research. 2015;116(12):1887-1906. DOI: 10.1161/CIRCRESAHA. 116.304521.
3. Basso C, Calabrese F, Corrado D, Thiene G. Postmortem diagnosis in sudden cardiac death victims:Macroscopic, microscopic and molecularfindings. Cardiovascular Research. 2001;50(2):290-300.
4. Virmani R, Burke AP, Farb A. Sudden cardiac death. Cardiovascular Pathology. 2001;10(5): 211-218.
5. Castelli JB, Almeida G, Siciliano RF. Sudden death in infective endocarditis. The Journal Autopsy and Case Reports. 2016;6(3):17-22.
6. Wilhelm M, Bolliger SA, Bartsch C, Fokstuen S, et al. Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Swiss Medical Weekly. 2015;w14129:145. DOI: 10.4414/smw.2015.14129.
7. Finocchiaro G, Papadakis M, Sharma S, Sheppard M. Sudden cardiac death. European Heart Journal. 2017;38(17):1280-1282. DOI: 10.1093/eurheartj/ehx194. 10.1176/appi.ajp.158.11.1774.
8. 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. VirchowsArchiv. 2008 Jan;452(1):11-18. Epub 2007 Oct 20. DOI: 10.1007/s00428-007-0505-5.
9. Fishman GI, Chugh SS, Dimarco JP, Albert CM, et al. Sudden cardiac death prediction and prevention: Report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society workshop. Circulation. 2010 Nov 30;122(22):2335-2348. DOI: 10.1161/ CIRCULATIONAHA.110.976092.
10. Wellens HJ, Schwartz PJ, Lindemans FW, Buxton AE, et al. Risk stratification for sudden cardiac death: Current status and challenges for the future. European Heart Journal. 2014;35(25):1642-1651. DOI:10.1093/eurheartj/ehu176 .
11. Thiene G, Corrado D, Rigato I, Basso C. Why and how to support screening strategies to prevent sudden death in athletes. Cell and Tissue Research. 2012;348(2):315-318. DOI:10.1007/s00441-012-1398-4
12. Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: The molecular autopsy and a practical approach to surviving relatives. European Heart Journal. 2015; 36(21):1290-1296. DOI: 10.1093/eurheartj/ehv063
13. Goldman AM, Behr ER, Semsarian C, Bagnall RD, Sisodiya S, Cooper PN. Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia. 2016;57:17-25. DOI: 10.1111/epi.13232
14. Bailey D. Guidelines on Autopsy Practice: Sudden Death with Likely Cardiac Pathology; 2015.
15. Di Gioia CR, Autore C, Romeo DM, Ciallella C, et al. Sudden cardiac death in younger adults: Autopsy diagnosis as a tool for preventive medicine. Human Pathology. 2006;37(7):794-801.DOI: 10.1016/j.humpath.2006.03.008.
16. Michaud K, Grabherr S, Jackowski C, Bollmann MD, Doenz F, Mangin P. Postmortem imaging of sudden cardiac death. International Journal of Legal Medicine. 2014 Jan;128(1):127-137. DOI: 10.1007/s00414-013-0819-6
17. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation. 1998;98(21):2334-2351.
18. Carrizo S, Peinado RP, Sanchez-Recalde A, Ruiz-Garcia J, et al. Clinical and angiographic characteristics of patients with acute coronary syndrome associated with sudden cardiac death. Hellenic Journal of Cardiology. 2015;56(2):136-141.
19. Hashimura H, Kimura F, Ishibashi-Ueda H, Morita Y, et al. Radiologic-pathologic correlation of primary and secondary cardiomyopathies: MR imaging and histopathologic findings in hearts from autopsy and transplantation. Radiographics. 2017;37(3):719-736. DOI: 10.1148/rg.2017160082.
20. Li L, Zhang Y, Burke A, Xue A, et al. Demographic, clinical and pathological features of sudden deaths due to myocarditis: Results from a state-wide population-based autopsy study. Forensic Science International. 2017;272:81-86. DOI: 10.1016/j.forsciint.2016.12.037 The Advancement of Postmortem Investigations in Sudden Cardiac Death http://dx.doi.org/10.5772/intechopen.71555 19.
21. Behere SP, Weindling SN. Inherited arrhythmias: The cardiac channelopathies. Annals of Pediatric Cardiology. 2015;8(3):210-220. DOI: 10.4103/0974-2069.164695.
22. Schwartz PJ, Ackerman MJ, GeorgeJr AL, Wilde AM. Impact of genetics on the clinical management of channelopathies. Journal of the American College of Cardiology. 2013;62(3): 169-180. DOI: doi.org/10.1016/j.jacc.2013.04.044.
23. Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic Testing and Molecular Biomarkers. 2013;17(7):553-561. DOI: 10.1089/gtmb.2012.0118.
24. Loporcaro CG, Tester DJ, Maleszewski JJ, Kruisselbrink T, Ackerman MJ. Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. Archives of Pathology & Laboratory Medicine. 2014;138(8):1083- 1089. DOI: 10.5858/arpa.2013-0479-SA.
25. Lahrouchi N, Behr ER, Bezzina1 CR. Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases. Frontiers in Cardiovascular Medicine. 2016;3:13. DOI: 10.3389/fcvm.2016.00013.
26. Semsarian C, Ingles J. Molecular autopsy in victims of inherited arrhythmias. Journal of Arrhythmia. 2016 Oct;32(5):359-365.
27. Bagnall RD, Semsarian C. Role of the molecular autopsy in the investigation of sudden cardiac death. Progress in Pediatric Cardiology. 2017;45:17-23. DOI: doi.org/10.1016/j. ppedcard.2017.02.005.
28. Sadeghpour A, Alizadehasl A, Mahdavi M. Coarctation of the aorta. In: Sadeghpour A, Kyavar M, Alizadehasl A, editors. Comprehensive Approach to Adult Congenital Heart Disease. London: Springer; 2014, p. 289-297.
29. Mondello C, Cardia L, Ventura-Spagnolo E. Immunohistochemical detection of early myocardial infarction: A systematic review. International Journal of Legal Medicine. 2017;131(2):411-421. DOI:10.1007/s00414-016-1494-1.
30. Torkamani A, Muse ED, Spencer EG, Rueda M, Wagner GN, Lucas JR, Topol EJ. Molecular autopsy for sudden unexpected death. Journal of the American Medical Association. 2016;316(14):1492-1494. DOI: 10.1001/jama.2016.11445.
31. Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR. Genetics of hypertrophic cardiomyopathy: A review of current state. Clinical Genetics. 2017. DOI: 10.1111/cge.13027.
32. Tavora F, CresswellN, Li L, RippleM, Fowler D, BurkeA.Morphologic features of exertional versus nonexertional sudden death in patients with hypertrophic cardiomyopathy. The American Journal of Cardiology. 2010;105(4):532-537. DOI: 10.1016/j.amjcard.2009.10.022 .
33. Kennedy MC, Lawrence C. Anabolic steroid abuse and cardiac death. The Medical Journal of Australia. 1993;158(5):346-348.
34. Fischbach P. The role of illicit drug use in sudden death in the young. Cardiology in the Young. 2017;27(S1):S75-S79. DOI: 10.1017/S1047951116002274.
35. Hartung B, Kauferstein S, Ritz-Timme S, Daldrup T. Sudden unexpected death under acute influence of cannabis. Forensic Science International. 2014;237:e11-e13. DOI: 10.1016/j. forsciint.2014.02.001.
36. Straus SM, Bleumink GS, Dieleman JP, van der Lei J, et al. Antipsychotics and the risk of sudden cardiac death. Archives of Internal Medicine. 2004;164(12):1293-1297.
37. SOFT/AAFS Forensic Laboratory Guidelines. 2006. Available from: http://www.soft tox. org/files/Guidelines_2006_Final.pdf.
38. Bagnall RD, Ingles J, Yeates L, Berkovic SF, Semsarian C. Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. Genetics in Medicine. 2017. DOI: 10.1038/gim.2017.15.
39. Lynge TH, Jeppesen AG, Winkel BG, Sondergaard L, Risgaard B, Tfelt-Hansen J. Decline in incidence of sudden cardiac death caused by congenital heart disease after implementation of nationwide prenatal ultrasound screening: A nationwide study. Circulation. 2016;134(1). DOI: A14270.
40. Erickson KL. An approach to the examination of the fetal congenitally malformed heart at autopsy. Journal of Fetal Medicine. 2015;2(3):135-141.
41. Sanchez O, Campuzano O, Fernández-Falgueras A, Sarquella-Brugada G, et al. Natural and undetermined sudden death: Value of post-mortem genetic investigation. PLoS One. 2016 Dec 8;11(12):e0167358. DOI: 10.1371/journal.pone.0167358.
42. Takahashi Y, Sano R, Takahashi K, Kominato Y, et al. Use of postmortem coronarycomputed tomography angiography with water-insoluble contrast medium to detect stenosis of the left anterior descending artery in a case of sudden death. Legal Medicine (Tokyo). 2016;19:47-51. DOI: 10.1016/j.legalmed.2016.02.003.
43. Sparrow PJ, Merchant N, Provost YL, Doyle DJ, Nguyen ET, Paul NS. CT and MR imaging findings in patients with acquired heart disease at risk for sudden cardiac death. Radiographics. 2009;29(3):805-823. DOI: 10.1148/rg.293085715.
44. Ampanozi G, Hatch GM, Flach PM, Thali MJ, Ruder TD. Postmortem magnetic resonance imaging: Reproducing typical autopsy heart measurements. Legal Medicine (Tokyo). 2015;17(6):493-498. DOI: 10.1016/j.legalmed.2015.10.008.
45. Saad R, Yamada AT, Pereira da Rosa FH, Gutierrez PS, Mansur AJ. Comparison between clinical and autopsy diagnoses in a cardiology hospital. Heart. 2007;93(11):1414-1419.
46. Glassman AH, Bigger JT Jr. Antipsychotic drugs: Prolonged QTc interval, torsade de pointes, and sudden death. The American Journal of Psychiatry. 2001;158(11):1774-1782. DOI:
47. Shojania KG, Burton EC. The vanishing nonforensic autopsy. The New England Journal of Medicine. 2008;358(9):873-875. DOI: 10.1056/NEJMp0707996.
48. Nemetz PN, Tanglos E, Sands LP, Fisher WP Jr, Newman WP 3rd, Burton EC. Attitudes toward the autopsy–an 8-state survey. MedGenMed. 2006 Sep 21;8(3):80 The Advancement of Postmortem Investigations in Sudden Cardiac Death http://dx.doi.org/10.5772/intechopen.7155521.
49. Graber ML. The incidence of diagnostic error in medicine. BMJ Quality and Safety. 2013 Oct;22(Suppl 2):ii21-ii27. DOI: 10.1136/bmjqs-2012-001615.
50. A Report of the National Confidential Enquiry into Patient Outcome and Death (2006) The Coroner’s Autopsy: Do we Deserve Better?. Available from: http://www.ncepod.orguk/2006Report/Downloads/Coronial%20Autopsy%20Report%202006.pdf.
51. Goldman L, Sayson R, Robbins S, Cohn LH, Bettmann M, Weisberg M. The value of the autopsy in three medical eras. The New England Journal of Medicine. 1983 Apr 28;308(17): 1000-1005.
Published
2023-05-10
How to Cite
SRPANOVA, Viktorija Belakaposka et al. AETIOLOGY OF SUDDEN CARDIAC DEATH IN FORENSIC MEDICAL PRACTICE AND AND SELECTION OF CASES FOR POST-MORTEM GENETIC TESTING – 5 YEAR RETROSPECTIVE STUDY. Journal of Morphological Sciences, [S.l.], v. 6, n. 1, p. 75-86, may 2023. ISSN 2545-4706. Available at: <https://jms.mk/jms/article/view/vol6no1-10>. Date accessed: 27 feb. 2024.
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Articles