Skip to main navigation menu Skip to main content Skip to site footer

Review article: Biomedical intelligence

Vol. 148 No. 2728 (2018)

Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice

  • Argelia Medeiros-Domingo
  • Stephan A. Bolliger
  • Christoph Gräni
  • Claudine Rieubland
  • Deborah Hersch
  • Babken Asatryan
  • Christian Schyma
  • Ardan M. Saguner
  • Daniel Wyler
  • Zahir Bhuiyan
  • Florence Fellmann
  • Antonio M. Osculati
  • Rebekka Ringger
  • Siv Fokstuen
  • Sara Sabatasso
  • Matthias Wilhelm
  • Katarzyna Michaud
  • for the Swiss Working Group on Sudden Cardiac Death
Cite this as:
Swiss Med Wkly. 2018;148:w14638
Published
12.07.2018

Summary

There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person’s privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.

References

  1. 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. doi:.https://doi.org/10.1016/j.pcad.2008.06.003
  2. Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J. 2015;36(21):1290–6. doi:.https://doi.org/10.1093/eurheartj/ehv063
  3. Lieve KV, Wilde AA. Inherited ion channel diseases: a brief review. Europace. 2015;17(Suppl 2):ii1–6. doi:.https://doi.org/10.1093/europace/euv105
  4. Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, et al. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016;374(25):2441–52. doi:.https://doi.org/10.1056/NEJMoa1510687
  5. 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. doi:.https://doi.org/10.1016/j.hrthm.2013.05.014
  6. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al.; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478–90. doi:.https://doi.org/10.1093/eurheartj/eht273
  7. Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, et al.; International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016;4(10):850–61. doi:.https://doi.org/10.1016/S2213-8587(16)30041-9
  8. Halushka MK. Single gene disorders of the aortic wall. Cardiovasc Pathol. 2012;21(4):240–4. doi:.https://doi.org/10.1016/j.carpath.2011.09.004
  9. Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, et al., The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. Eur Heart J. 2014;35(41):2873–926. doi:.https://doi.org/10.1093/eurheartj/ehu281
  10. Ripperger T, Tröger HD, Schmidtke J. The genetic message of a sudden, unexpected death due to thoracic aortic dissection. Forensic Sci Int. 2009;187(1-3):1–5. doi:.https://doi.org/10.1016/j.forsciint.2009.01.020
  11. Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, et al. Spontaneous coronary artery dissection and its association with heritable connective tissue disorders. Heart. 2016;102(11):876–81. doi:.https://doi.org/10.1136/heartjnl-2015-308645
  12. Brandimarti F, Alessandrini F, Pesaresi M, Catalani C, De Angelis L, Galeazzi R, et al. Investigation on genetic thrombophilic factors in FFPE autopsy tissue from subjects who died from pulmonary embolism. Int J Legal Med. 2017;131(2):447–58. doi:.https://doi.org/10.1007/s00414-016-1508-z
  13. Konstantinides SV, Torbicki A, Agnelli G, Danchin N, Fitzmaurice D, Galiè N, et al., Task Force for the Diagnosis and Management of Acute Pulmonary Embolism of the European Society of Cardiology (ESC). 2014 ESC guidelines on the diagnosis and management of acute pulmonary embolism. Eur Heart J. 2014;35(43):3033–73. doi:.https://doi.org/10.1093/eurheartj/ehu283
  14. Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, et al.; Leducq Mitral Transatlantic Network. Mitral valve disease--morphology and mechanisms. Nat Rev Cardiol. 2015;12(12):689–710. doi:.https://doi.org/10.1038/nrcardio.2015.161
  15. Wilhelm M, Bolliger SA, Bartsch C, Fokstuen S, Gräni C, Martos V, et al. Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Swiss Med Wkly. 2015;145:w14129. doi:.https://doi.org/10.4414/smw.2015.14129
  16. Basso C, Aguilera B, Banner J, Cohle S, d’Amati G, de Gouveia RH, et al.; Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch. 2017;471(6):691–705. doi:.https://doi.org/10.1007/s00428-017-2221-0
  17. Hofman N, Wilde AA. Role of Genetic Testing in Patients with Ventricular Arrhythmias in Apparently Normal Hearts. Card Electrophysiol Clin. 2016;8(3):515–23. doi:.https://doi.org/10.1016/j.ccep.2016.04.002
  18. 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.
  19. Blokker BM, Wagensveld IM, Weustink AC, Oosterhuis JW, Hunink MG. Non-invasive or minimally invasive autopsy compared to conventional autopsy of suspected natural deaths in adults: a systematic review. Eur Radiol. 2016;26(4):1159–79. doi:.https://doi.org/10.1007/s00330-015-3908-8
  20. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al.; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). 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. doi:.https://doi.org/10.1093/europace/eur245
  21. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm. 2013;10(12):e85–108. doi:.https://doi.org/10.1016/j.hrthm.2013.07.021
  22. Boers SN, van Delden JJ, Knoers NV, Bredenoord AL. Postmortem disclosure of genetic information to family members: active or passive? Trends Mol Med. 2015;21(3):148–53. doi:.https://doi.org/10.1016/j.molmed.2015.01.002
  23. Brownsword R, Wale J. The Right to Know and the Right Not to Know Revisited: Part One. Asian Bioeth Rev. 2017;9(1):3–18.
  24. Vavolizza RD, Kalia I, Aaron KE, Silverstein LB, Barlevy D, Wasserman D, et al. Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice? J Genet Couns. 2015;24(4):608–15. doi:.https://doi.org/10.1007/s10897-014-9783-7
  25. 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. doi:.https://doi.org/10.1016/j.mayocp.2012.02.017
  26. Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, et al. Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study). Am J Cardiol. 2015;116(6):894–9. doi:.https://doi.org/10.1016/j.amjcard.2015.06.030
  27. Barefield D, Kumar M, de Tombe PP, Sadayappan S. Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol. 2014;306(6):H807–15. doi:.https://doi.org/10.1152/ajpheart.00913.2013
  28. Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, et al.; American Heart Association Council on Functional Genomics and Translational Biology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Stroke Council; Council on Lifestyle and Cardiometabolic Health; and Council on Quality of Care and Outcomes Research. Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association. Circ Cardiovasc Genet. 2016;9(5):448–67. doi:.https://doi.org/10.1161/HCG.0000000000000031
  29. Dolmatova E, Mahida S, Ellinor PT, Lubitz SA. Genetic etiology and evaluation of sudden cardiac death. Curr Cardiol Rep. 2013;15(8):389. doi:.https://doi.org/10.1007/s11886-013-0389-8
  30. Ingles J, James C. Psychosocial care and cardiac genetic counseling following sudden cardiac death in the young. Prog Pediatr Cardiol. 2017;45:31–6. doi:.https://doi.org/10.1016/j.ppedcard.2017.03.001
  31. Ingles J, Spinks C, Yeates L, McGeechan K, Kasparian N, Semsarian C. Posttraumatic Stress and Prolonged Grief After the Sudden Cardiac Death of a Young Relative. JAMA Intern Med. 2016;176(3):402–5. doi:.https://doi.org/10.1001/jamainternmed.2015.7808
  32. Caleshu C, Kasparian NA, Edwards KS, Yeates L, Semsarian C, Perez M, et al. Interdisciplinary psychosocial care for families with inherited cardiovascular diseases. Trends Cardiovasc Med. 2016;26(7):647–53. doi:.https://doi.org/10.1016/j.tcm.2016.04.010
  33. Hidayatallah N, Silverstein LB, Stolerman M, McDonald T, Walsh CA, Paljevic E, et al. Psychological stress associated with cardiogenetic conditions. Per Med. 2014;11(7):631–40. doi:.https://doi.org/10.2217/pme.14.50
  34. Vavolizza RD, Kalia I, Aaron KE, Silverstein LB, Barlevy D, Wasserman D, et al. Disclosing Genetic Information to Family Members About Inherited Cardiac Arrhythmias: An Obligation or a Choice? J Genet Couns. 2015;24(4):608–15. doi:.https://doi.org/10.1007/s10897-014-9783-7
  35. Hendriks KS, Grosfeld FJ, van Tintelen JP, van Langen IM, Wilde AA, van den Bout J, et al. Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndrome. Am J Med Genet A. 2005;138A(2):107–12. doi:.https://doi.org/10.1002/ajmg.a.30861
  36. Wiley KA, Demo EM, Walker P, Shuler CO. Exploring the Discussion of Risk of Sudden Cardiac Death. Pediatr Cardiol. 2016;37(2):262–70. doi:.https://doi.org/10.1007/s00246-015-1272-8
  37. Erskine KE, Griffith E, Degroat N, Stolerman M, Silverstein LB, Hidayatallah N, et al. An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic. Per Med. 2013;10(1):73–80. doi:.https://doi.org/10.2217/pme.12.108
  38. DiMatteo MR, Lepper HS, Croghan TW. Depression is a risk factor for noncompliance with medical treatment: meta-analysis of the effects of anxiety and depression on patient adherence. Arch Intern Med. 2000;160(14):2101–7. doi:.https://doi.org/10.1001/archinte.160.14.2101
  39. 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). Heart Rhythm. 2011;8(8):1308–39. doi:.https://doi.org/10.1016/j.hrthm.2011.05.020
  40. Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al.; ESC Scientific Document Group. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793–867. doi:.https://doi.org/10.1093/eurheartj/ehv316
  41. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–23. doi:.https://doi.org/10.1038/gim.2015.30