Display options
Cite
Dalgaard CV, Hansen BL, Jacobsen EM, et al. Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives. J Cardiovasc Electrophysiol. 2021;doi: 10.1111/jce.15333.
Dalgaard, C. V., Hansen, B. L., Jacobsen, E. M., Kjerrumgaard, A., Tfelt-Hansen, J., Weeke, P. E., Winkel, B. G., Christensen, A. H., & Bundgaard, H. (2021). Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives. Journal of cardiovascular electrophysiology, . https://doi.org/10.1111/jce.15333
Dalgaard, Cathrine V, et al. "Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives." Journal of cardiovascular electrophysiology vol. (2021). doi: https://doi.org/10.1111/jce.15333
Dalgaard CV, Hansen BL, Jacobsen EM, Kjerrumgaard A, Tfelt-Hansen J, Weeke PE, Winkel BG, Christensen AH, Bundgaard H. Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives. J Cardiovasc Electrophysiol. 2021 Dec 16; doi: 10.1111/jce.15333. Epub 2021 Dec 16. PMID: 34918422.
Copy Download .nbib Format: NLM
Share it on

J Cardiovasc Electrophysiol. 2021 Dec 16; doi: 10.1111/jce.15333. Epub 2021 Dec 16.

Sudden unexplained death versus nonautopsied possible sudden cardiac death: Findings in relatives.

Journal of cardiovascular electrophysiology

Cathrine V Dalgaard, Benjamin L Hansen, Elisabeth M Jacobsen, Amalie Kjerrumgaard, Jacob Tfelt-Hansen, Peter E Weeke, Bo G Winkel, Alex H Christensen, Henning Bundgaard

Affiliations

  1. Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Kobenhavn, Denmark.
  2. Department of Forensic Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.
  3. Department of Cardiology, Herlev-Gentofte, Copenhagen University Hospital, Kobenhavn, Denmark.

PMID: 34918422 DOI: 10.1111/jce.15333

Abstract

BACKGROUND: International guidelines recommend work-up of relatives to autopsy negative sudden cardiac death victims, denoted as sudden unexplained death (SUD) and nonautopsied possible sudden cardiac death (pSCD) victims. This study assesses and compare baseline characteristics and clinical outcome at initial evaluation and during follow-up of relatives to SUD and pSCD victims.

METHODS: We retrospectively included data from systematic screening and routine follow-up of first-degree relatives to SUD and pSCD victims referred to our Unit for Inherited Cardiac Diseases, Copenhagen, 2005-2018. Victims with an antemortem known inherited cardiac disease were excluded.

RESULTS: We included 371 first-degree relatives from 187 families (120 SUD, 67 pSCD): 276 SUD relatives (age 33 ± 18 years, 54% men) and 95 pSCD relatives (age 40 ± 15 years, 51% men). The diagnostic yields of inherited cardiac diseases in SUD and pSCD families were 16% and 13%, respectively (p = .8). The diagnoses in SUD families were mainly channelopathies (68%), whereas pSCD families were equally diagnosed with cardiomyopathies, channelopathies, and premature ischemic heart disease. Ninety-three percent of diagnosed families were diagnosed at initial evaluation and 7% during follow-up (5.4 ± 3.3 years). During follow-up 34% of relatives with a diagnosed inherited cardiac disease had an arrhythmic event, compared to 5% of relatives without established diagnosis (p < .0001).

CONCLUSIONS: Channelopathies dominated in SUD families whereas a broader spectrum of inherited diseases was diagnosed in pSCD families. Most affected relatives were diagnosed at initial evaluation. The event rate was low in relatives without an established diagnosis. Long-term clinical follow-up may not be warranted in all relatives with normal baseline-findings.

© 2021 Wiley Periodicals LLC.

Keywords: cardiomyopathy; family screening; ion channel disease; sudden cardiac death; sudden unexplained death

References

  1. van der Werf C, van Langen IM, Wilde AAM. Sudden death in the young: what do we know about it and how to prevent? Circ Arrhythm Electrophysiol. 2010;3(1):96-104. - PubMed
  2. Danish Society of Cardiology. Sudden unexplained death under the age of 50 years-recommandations for systemic autopsy and follow-up of relatives when an familiar inherited cardiac disease is discovered. 2012. - PubMed
  3. Risgaard B, Winkel BG, Jabbari R, et al. Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in Denmark. Circ Arrhythm Electrophysiol. 2014;7(2):205-211. - PubMed
  4. Winkel BG, Holst AG, Theilade J, et al. Nationwide study of sudden cardiac death in persons aged 1-35 years. Eur Heart J. 2011;32(8):983-990. - PubMed
  5. Behr E, Wood D, Wright M, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362(9394):1457-1459. - PubMed
  6. Drory Y, Turetz Y, Hiss Y, et al. Sudden unexpected death in persons <40 years of age. Am J Cardiol. 1991;68(13):1388-1392. - PubMed
  7. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac deathThe 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):2793-2867. - PubMed
  8. Danish Society of Cardiology. Inheritable Cardiac Diseases-Danish National Guideline. 2013. - PubMed
  9. Kumar S, Peters S, Thompson T, et al. Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm. 2013;10(11):1653-1660. - PubMed
  10. Tan Hanno L, Hofman N, van Langen IM, van der Wal Allard C, Wilde Arthur, AM. Sudden unexplained death. Circulation. 2005;112(2):207-213. - PubMed
  11. van der Werf C, Hofman N, Tan HL, et al. Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. Heart Rhythm. 2010;7(10):1383-1389. - PubMed
  12. Kjerrumgaard A, Jacobsen EM, Hansen BL, Tfelt-Hansen J, Winkel BG, Christensen AH. Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims. Int J Cardiol. 2020;318:61-66. - PubMed
  13. Hansen BL, Jacobsen EM, Kjerrumgaard A, et al. Diagnostic yield in victims of sudden cardiac death and their relatives. Europace. 2020;22(6):964-971. - PubMed
  14. Jacobsen EM, Hansen BL, Kjerrumgaard A, et al. Diagnostic yield and long-term outcome of nonischemic sudden cardiac arrest survivors and their relatives: results from a tertiary referral center. Heart Rhythm. 2020;17(10):1679-1686. - PubMed
  15. Richards S, Aziz N, Bale S, et al. 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):405-424. - PubMed
  16. Behr ER, 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(13):1670-1680. - PubMed
  17. Stiles MK, Wilde AAM, Abrams DJ, et al. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm. 2021;18(1):e1-e50. - PubMed
  18. van der Werf C, Stiekema L, Tan HL, et al. Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up. Heart Rhythm. 2014;11(10):1728-1732. - PubMed
  19. Müllertz KM, Christiansen MK, Broendberg AK, Pedersen LN, Jensen HK. Outcome of clinical management in relatives of sudden cardiac death victims. Int J Cardiol. 2018;262:45-50. - PubMed
  20. Quenin P, Kyndt F, Mabo P, et al. Clinical yield of familial screening after sudden death in young subjects. Circ Arrhythm Electrophysiol. 2017;10(9):e005236. - PubMed
  21. McGorrian C, Constant O, Harper N, et al. Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace. 2013;15(7):1050-1058. - PubMed
  22. Bagnall RD, Weintraub RG, Ingles J, et al. Prospective study of sudden cardiac death among children and young adults. N Engl J Med. 2016;374(25):2441-2452. - PubMed
  23. Wong LCH, Roses-Noguer F, Till JA, Behr ER. Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome. Circ Arrhythm Electrophysiol. 2014;7(5):800-806. - PubMed
  24. Lahrouchi N, Raju H, Lodder EM, et al. Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome. J Am Coll Cardiol. 2017;69(17):2134-2145. - PubMed
  25. Mellor G, Laksman ZWM, Tadros R, et al. Genetic testing in the evaluation of unexplained cardiac arrest: from the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). Circ Cardiovasc Genet. 2017;10(3):e001686. - PubMed
  26. Doolan A, Semsarian C, Langlois N. Causes of sudden cardiac death in young Australians. Med J Aust. 2004;180(3):110-112. - PubMed
  27. Isbister J, Semsarian C. Cardiovascular genomics and sudden cardiac death in the young. Aust J Gen Pract. 2019;48(3):90-95. - PubMed
  28. McNair WP, Sinagra G, Taylor MRG, et al. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011;57(21):2160-2168. - PubMed
  29. Tfelt-Hansen J, Winkel BG, Grunnet M, Jespersen T. Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel. J Cardiovasc Electrophysiol. 2010;21(1):107-115. - PubMed

Publication Types

Grant support