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Review article: Biomedical intelligence

Vol. 145 No. 2526 (2015)

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

  • Matthias Wilhelm
  • Stephan A Bolliger
  • Christine Bartsch
  • Siv Fokstuen
  • Christoph Gräni
  • Viktor Martos
  • Argelia Medeiros Domingo
  • Antonio Osculati
  • Claudine Rieubland
  • Sara Sabatasso
  • Ardan M Saguner
  • Christian Schyma
  • Joelle Tschui
  • Daniel Wyler
  • Zahurul A. Bhuiyan
  • Florence Fellmann
  • Katarzyna Michaud
Cite this as:
Swiss Med Wkly. 2015;145:w14129


Sudden cardiac death (SCD) is by definition unexpected and cardiac in nature. The investigation is almost invariably performed by a forensic pathologist. Under these circumstances the role of the forensic pathologist is twofold: (1.) to determine rapidly and efficiently the cause and manner of death and (2.) to initiate a multidisciplinary process in order to prevent further deaths in existing family members. If the death is determined to be due to “natural” causes the district attorney in charge often refuses further examinations. However, additional examinations, i.e. extensive histopathological investigations and/or molecular genetic analyses, are necessary in many cases to clarify the cause of death. The Swiss Society of Legal Medicine created a multidisciplinary working group together with clinical and molecular geneticists and cardiologists in the hope of harmonising the approach to investigate SCD. The aim of this paper is to close the gap between the Swiss recommendations for routine forensic post-mortem cardiac examination and clinical recommendations for genetic testing of inherited cardiac diseases; this is in order to optimise the diagnostic procedures and preventive measures for living family members.

The key points of the recommendations are (1.) the forensic autopsy procedure for all SCD victims under 40 years of age, (2.) the collection and storage of adequate samples for genetic testing, (3.) communication with the families, and (4.) a multidisciplinary approach including cardiogenetic counselling.


  1. Papadakis M, Sharma S, Cox S, Sheppard MN, Panoulas VF, Behr ER. The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales. Europace. 2009;11(10):1353–8.
  2. Pilmer CM, Porter B, Kirsh JA, Hicks AL, Gledhill N, Jamnik V, et al. Scope and nature of sudden cardiac death before age 40 in Ontario: A report from the Cardiac Death Advisory Committee of the Office of the Chief Coroner. Heart Rhythm. 2013;10(4):517–23.
  3. Vaartjes I, Hendrix A, Hertogh EM, Grobbee DE, Doevendans PA, Mosterd A, et al. Sudden death in persons younger than 40 years of age: incidence and causes. Eur J Cardiovasc Prev & Rehabil. 2009;16(5):592–6.
  4. Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL, et al. Nationwide study of sudden cardiac death in persons aged 1–35 years. Eur Heart J. 2011;32(8):983–90.
  5. Hofer F, Fellmann F, Schlapfer J, Michaud K. Sudden cardiac death in the young (5–39 years) in the canton of Vaud, Switzerland. BMC Cardiovascular Disorders. 2014;14(1):140.
  6. Chugh SS, Reinier K, Teodorescu C, Evanado A, Kehr E, Al Samara M, et al. Epidemiology of Sudden Cardiac Death: Clinical and Research Implications. Prog Cardiovasc Dis. 2008;51(3):213–28.
  7. Boczek NJ, Tester DJ, Ackerman MJ. The molecular autopsy: an indispensable step following sudden cardiac death in the young? Herzschrittmacherther Elektrophysiol. 2012;23(3):167–73.
  8. Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm. 2012;9(1):145–50.
  9. Tester DJ, Ackerman MJ. The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol. 2012;33(3):461–70.
  10. Michaud K, Mangin P, Elger B. Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices. Int J Legal Med. 2010:1–8.
  11. Nunn LM, Lambiase PD. Genetics and cardiovascular disease – causes and prevention of unexpected sudden adult death: the role of the SADS clinic. Heart. 2011;97(14):1122–7.
  12. Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012;87(6):524–39.
  13. Behr ER, Casey A, Sheppard M, Wright M, Bowker TJ, Davies MJ, et al. Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death. Heart. 2007;93(5):601–5.
  14. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, 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). Europace. 2011;13(8):1077–109.
  15. Authors/Task Force m, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733–79.
  16. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes: Document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013;10(12):1932–63.
  17. Brinkmann B. Harmonisation of medico-legal autopsy rules. Int J Legal Med. 1999;113(1):1–14.
  18. Basso C, Burke M, Fornes P, Gallagher P, de Gouveia R, Sheppard M, et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Archiv. 2008;452(1):11–8.
  19. Eckart RE, Shry EA, Burke AP, McNear JA, Appel DA, Castillo-Rojas LM, et al. Sudden Death in Young Adults: An Autopsy-Based Series of a Population Undergoing Active Surveillance. J Am Coll Cardiol. 2011;58(12):1254–61.
  20. Thiene G, Veinot JP, Angelini A, Baandrup UT, Basso C, Bruneval P, et al. AECVP and SCVP 2009 Recommendations for Training in Cardiovascular Pathology. Cardiovasc Pathol. 2010;19(3):129–35.
  21. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. The Lancet. 2009;373(9671):1289–300.
  22. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology. 2004;44(5):412–27.
  23. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113(14):1807–16.
  24. Napolitano C, Bloise R, Monteforte N, Priori SG. Sudden Cardiac Death and Genetic Ion Channelopathies: Long QT, Brugada, Short QT, Catecholaminergic Polymorphic Ventricular Tachycardia, and Idiopathic Ventricular Fibrillation. Circulation. 2012;125(16):2027–34.
  25. Wilde AA, Tan HL, Wilde AA, Tan HL. Inherited arrhythmia syndromes. Circulation Journal. 2007;71(Suppl A):A12–9.
  26. Wilde AAM, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013;10(10):571–83.
  27. Abriel H, Zaklyazminskaya EV. Cardiac channelopathies: genetic and molecular mechanisms. Gene. 2013;517(1):1–11.
  28. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715–26.
  29. Koneru JN, Wood MA, Ellenbogen KA. Rare Forms of Preexcitation: A Case Study and Brief Overview of Familial Forms of Preexcitation. Circ Arrhythm Electrophysiol. 2012;5(4):e82–e7.
  30. Elger BS, Michaud K, Fellmann F, Mangin P. Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases. Clin Genet. 2010;77(3):287–92.
  31. Michaud K, Fellmann F, Abriel H, Beckmann JS, Mangin P, Elger BS. Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration. Swiss Med Wkly. 2009;139(49–50):712–8.
  32. (Accessed 11th February 2015.)

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