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How to develop a clinic for sudden cardiac arrest survivors and families of non-survivors

Published online by Cambridge University Press:  13 January 2017

Dominic J. Abrams
Inherited Cardiac Arrhythmia Program & Division of Cardiac Electrophysiology, Boston Children’s Hospital, Boston, Massachusetts, United States of America


The investigation of the aetiology of sudden cardiac arrest or death in a young person combines features of a traditional clinical medical examination with those of forensic medicine. Nuances of the immediate peri-event history, when available, can be paramount. New genetic tools have greatly improved the yield of such investigations, but they must be carefully interpreted by genetic specialists. The approach to surviving patients, their family members, and to family members of non-survivors is best achieved in a structured programme that includes all appropriate specialists and support personnel. As an example, this may include all appropriate paediatric and internal medicine specialists, a geneticist, a genetic counsellor, a clinical psychologist, nurse specialist(s), and a programme coordinator. This family-centred strategy affords the patient, if surviving, and all family members the necessary emotional and medical support while at the same time providing the necessary diagnostic and therapeutic approaches.

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© Cambridge University Press 2017 

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1. Meyer, L, Stubbs, B, Fahrenbruch, C, et al. Incidence, causes and survival trends from cardiovascular-related sudden cardiac arrest in children and young adults 0 to 35 years of age. A 30-year review. Circulation 2012; 126: 13631372.CrossRefGoogle Scholar
2. Atkins, DL, Everson-Stewart, S, Sears, GK, et al. Epidemiology and outcomes from out of hospital arrest in children: the resuscitation outcomes consortium epistry – cardiac arrest. Circulation 2009; 119: 14841491.CrossRefGoogle ScholarPubMed
3. Bardai, A, Berdowski, J, van der Werf, C, et al. Incidence, causes and outcomes of out-of-hospital cardiac arrest in children. J Am Coll Cardiol 2011; 57: 18221828.CrossRefGoogle ScholarPubMed
4. Kitamura, T, Iwami, T, Kawamura, T, et al. Conventional and chest-compression-only cardiopulmonary resuscitation by bystanders for children who have out-of-hospital cardiac arrests: a prospective, nationwide, population-based cohort study. Lancet 2010; 375: 13471354.CrossRefGoogle ScholarPubMed
5. Gerein, RB, Osmond, MH, Stiell, IG, et al. What are the etiology and epidemiology of out-of-hospital pediatric cardiopulmonary arrest in Ontario, Canada. Acad Emerg Med 2006; 13: 653658.CrossRefGoogle ScholarPubMed
6. ECC Committee, Subcommittees and Task Forces of the American, Heart Association. American Heart Association guidelines for cardiopulmonary resuscitation and emergency cardiovascular care. Circulation 2005; 112 (suppl): IV-1IV-203.Google ScholarPubMed
7. Rea, TD, Helbock, M, Perry, S, et al. Increasing use of cardiopulmonary resuscitation during out-of-hospital ventricular fibrillation arrest: survival implications of guideline changes. Circulation 2006; 114: 27602765.CrossRefGoogle ScholarPubMed
8. Maron, BJ, Doerer, JJ, Haas, TS, et al. Sudden death in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 2009; 119: 10851092.CrossRefGoogle ScholarPubMed
9. Corrado, D, Basso, C, Pavei, A, Michieli, P, Schiavon, M, Thiene, G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006; 296: 15931601.CrossRefGoogle ScholarPubMed
10. Hodgkinson, KA, Connors, SP, Merner, N, et al. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clin Genet 2013; 83: 321331.CrossRefGoogle ScholarPubMed
11. Ackerman, MJ. Malignant bileaflet mitral valve prolapse syndrome in patients with otherwise idiopathic out of hospital cardiac arrest. J Am Coll Cardiol 2013; 62: 222230.Google Scholar
12. Basso, C, Perazzolo, MM, Rizzo, S, et al. Arrhythmic mitral valve prolapse and sudden cardiac death. Circulation 2015; 132: 556566.CrossRefGoogle ScholarPubMed
13. Durst, R, Sauls, K, Peal, DS, et al. Mutations in DCHS1 cause mitral valve prolapse. Nature 2015; 525: 109113.CrossRefGoogle ScholarPubMed
14. Mellor, G, Raju, H, de Noronha, SV, et al. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome. Circ Arrhythm Electrophysiol 2014; 7: 10781083.CrossRefGoogle ScholarPubMed
15. Tabib, A, Loire, R, Chalabreysse, L, et al. Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation 2003; 108: 30003005.CrossRefGoogle ScholarPubMed
16. Vincent, GM, Schwartz, PJ, Denjoy, I. High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment “failures”. Circulation 2009; 119: 215221.CrossRefGoogle ScholarPubMed
17. Probst, V, Denjoy, I, Meregalli, PG, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007; 115: 20422048.CrossRefGoogle ScholarPubMed
18. McCormick, JM, McAlister, H, Crawford, J, et al. Misdiagnosis of long QT syndrome as epilepsy at first presentation. Ann Emerg Med 2009; 54: 2632.CrossRefGoogle Scholar
19. Johnson, JN, Hofman, N, Haglund, CM, Cascino, GD, Wilde, AA, Ackerman, MJ. Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology 2009; 72: 224231.CrossRefGoogle ScholarPubMed
20. Shorven, S, Tomson, T. Sudden unexplained death in epilepsy. Lancet 2011; 378: 20282038.CrossRefGoogle Scholar
21. Zhang, L, Benson, DW, Tristani-Firouzi, M, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 27202726.CrossRefGoogle ScholarPubMed
22. Beausejour-Ladouceur, V, Joyce, E, Stevenson, LW, et al. Cutaneous phenotype associated with autosomal dominant arrhythmogenic cardiomyopathy. Heart Rhythm Society 35th Scientific Sessions 2014.Google Scholar
23. Fatkin, D, MacRae, C, Sasaki, T, Wolff, MR, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341: 17151724.CrossRefGoogle ScholarPubMed
24. Dalakas, MC, Park, KY, Semino-Mora, C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000; 342: 770780.CrossRefGoogle ScholarPubMed
25. Delmar, M, McKenna, WJ. The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res 2010; 107: 700714.CrossRefGoogle ScholarPubMed
26. Sy, RW, Gollob, MH, Klein, GJ, et al. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2011; 8: 864871.CrossRefGoogle ScholarPubMed
27. Adler, A, van der Werf, C, Postema, P, et al. The phenomenon of “QT stunning”: the abnormal QT prolongation provoked by standing persists even as the heart rate returns to normal in patients with long QT syndrome. Heart Rhythm 2012; 9: 901908.CrossRefGoogle ScholarPubMed
28. Sy, RW, van der Werf, C, Chattha, IS, et al. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation 2011; 124: 21872194.CrossRefGoogle ScholarPubMed
29. Perrin, MJ, Angaran, P, Laksman, Z, et al. Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2013; 62: 17721779.CrossRefGoogle ScholarPubMed
30. Antzelevitch, C, Brugada, P, Borggrefe, M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005; 111: 659670.CrossRefGoogle ScholarPubMed
31. Wilde, AA, Antzelevitch, C, Borggrefe, M, et al. Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 2001; 106: 25142519.CrossRefGoogle ScholarPubMed
32. Hasdemir, C, Payzin, S, Kocabas, U, et al. High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. Heart Rhythm 2015; 12: 15841594.CrossRefGoogle ScholarPubMed
33. Herman, AR, Cheung, C, Gerull, B, et al. Outcome of apparently unexplained cardiac arrest: results from investigation and follow-up of the prospective cardiac arrest survivors with preserved ejection fraction registry. Circ Arrhythm Electrophysiol 2016; 9: e003619.CrossRefGoogle ScholarPubMed
34. Denis, A, Sacher, F, Derval, N, et al. Diagnostic value of isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol 2014; 7: 590597.CrossRefGoogle ScholarPubMed
35. Olde Nordkamp, LR, Postema, PG, Knops, RE, et al. Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: a systematic review and meta-analysis of inappropriate shocks and complications. Heart Rhythm 2016; 13: 443454.CrossRefGoogle ScholarPubMed
36. Hayashi, M, Denjoy, I, Extramiana, F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009; 119: 24262434.CrossRefGoogle ScholarPubMed
37. Watanabe, H, Chopra, N, Laver, D, et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med 2009; 15: 380383.CrossRefGoogle ScholarPubMed
38. De Ferrari, GM, Dusi, V, Spazzolini, C, et al. Clinical management of catecholaminergic polymorphic ventricular tachycardia: the role of left cardiac sympathetic denervation. Circulation 2015; 131: 21852193.CrossRefGoogle ScholarPubMed
39. Corrado, D, Basso, C, Thiene, G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001; 50: 399408.CrossRefGoogle ScholarPubMed
40. de Noronha, SV, Behr, ER, Papadakis, M, et al. The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace 2014; 16: 899907.CrossRefGoogle ScholarPubMed
41. Papadakis, M, Raju, H, Behr, ER, et al. Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. Circ Arrhythm Electrophysiol 2013; 6: 588596.CrossRefGoogle ScholarPubMed
42. Tan, HL, Hofman, N, van Langen, IM, et al. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005; 112: 207213.CrossRefGoogle ScholarPubMed
43. Priori, SG, Wilde, AA, Horie, M, 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: 19321963.CrossRefGoogle ScholarPubMed
44. Wilms, HR, Midgley, DJ, Morrow, P, Stables, S, Crawford, J, Skinner, JR. Evaluation of autopsy and police reports in the investigation of sudden unexplained death in the young. Forensic Sci Med Pathol 2012; 8: 380389.CrossRefGoogle Scholar
45. Seminarian, C, Ingles, J, Wilde, AAM. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J 2015; 36: 12901296.CrossRefGoogle Scholar
46. Hidayatallah, N, Silverstein, LB, Stolerman, M, et al. Psychological stress associated with cardiogenetic conditions. Per Med 2014; 11: 631640.CrossRefGoogle ScholarPubMed
47. Hofman, N, Tan, HL, Alders, M, et al. Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years’ experience. Circulation 2013; 128: 15131521.CrossRefGoogle ScholarPubMed
48. 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: 405424.CrossRefGoogle ScholarPubMed
49. Earle, N, Crawford, J, Smith, W, et al. Community detection of long QT syndrome with a clinical registry: an alternative to ECG screening programs? Heart Rhythm 2013; 10: 233238.CrossRefGoogle ScholarPubMed
50. Bai, R, Napolitano, C, Bloise, R, et al. Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing. Circ Arrhythm Electrophysiol 2009; 2: 615.CrossRefGoogle ScholarPubMed
51. Anderson, JH, Tester, DJ, Will, ML, Ackerman, MJ. Whole exome molecular autopsy following exertion-related sudden unexplained death in the young. Circ Cardiovasc Genet 2016; 9: 259265.CrossRefGoogle Scholar
52. Priori, SG, Napolitano, C, Memmi, M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 6974.CrossRefGoogle ScholarPubMed
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