The molecular autopsy: Should the evaluation continue after the funeral?

Pediatric Cardiology

Volumn 33, Issue 3, 2012, Pages 461-470

  Tester, David J ^a,b   Ackerman, Michael J ^a,b  

^a Windland Smith Rice Sudden Death Genomics Laboratory   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

Brugada syndrome; Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome; Molecular autopsy; Sudden cardiac death; Sudden unexplained death

Indexed keywords

AUTOPSY; BRUGADA SYNDROME; CARDIAC CHANNELOPATHY; CARDIOMYOPATHY; CAUSE OF DEATH; DISEASE ASSOCIATION; EXERCISE; FAMILY HISTORY; HEART ARREST; HEART ARRHYTHMIA; HUMAN; INCIDENCE; LONG QT SYNDROME; NEWBORN DEATH; PATHOPHYSIOLOGY; POSTHUMOUS CARE; REVIEW; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; UNITED KINGDOM; UNITED STATES; ADOLESCENT; AGE; INFANT; INSTRUMENTATION; METHODOLOGY; NEWBORN; PATHOLOGY; RISK ASSESSMENT;

ADOLESCENT; AGE FACTORS; AUTOPSY; BRUGADA SYNDROME; CAUSE OF DEATH; DEATH, SUDDEN, CARDIAC; FUNERAL RITES; HUMANS; INFANT; INFANT, NEWBORN; LONG QT SYNDROME; RISK ASSESSMENT; SUDDEN INFANT DEATH; UNITED STATES;

EID: 84862705400     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-012-0160-8     Document Type: Review

References (76)

1. Ackerman MJ, Clapham DE (1998) Ion channels: basic science and clinical disease. N Engl J Med. 336:1575-1586
2. Ackerman MJ (2004) Cardiac channelopathies: it's in the genes. Nat Med 10:463-464 (Pubitemid 38667902)
3. Ackerman MJ (2005) Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies. Semin Pediatr Neurol 12:52-58 (Pubitemid 40558914)
4. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286:2264-2269 (Pubitemid 33063149)
5. Ackerman MJ, Tester DJ, Driscoll DJ (2001) Molecular autopsy of sudden unexplained death in the young. Am J Forensic Med Pathol 22:105-111 (Pubitemid 32494104)
6. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hersh-berger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP (2011) HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardio-myopathies. This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 8:1308-1339
7. Arnestad M, Vege A, Rognum TO (2002) Evaluation of diagnostic tools applied in the examination of sudden unexpected deaths in infancy and early childhood. Forensic Sci Int 125: 262-268 (Pubitemid 34224155)
8. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ (2007) Prevalence of long QT syndrome gene variants in sudden infant death syndrome. Circulation 115:361-367 (Pubitemid 46148510)
9. Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A, Association for European Cardiovascular Pathalogy (2008) Guidelines for autopsy investigation of sudden cardiac death. Virchows Archiv 452:11-18
10. Basso C, Carturan E, Pilichou K, Rizzo S, Corrado D, Thiene G (2010) Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol 19:321-325
11. Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, Davies MJ, McKenna W (2003) Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet 362:1457
12. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, Rowland E, Jeffery S, McKenna WJ (2008) Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 29:1670-1680 (Pubitemid 351957547)
13. Brugada P, Benito B, Brugada R, Brugada J (2009) Brugada syndrome: update 2009. HJC Hellenic J Cardiol 50:352-372
14. Burke AP, Farb A, Virmani R, Goodin J, Smialek JE (1991) Sports-related and non-sports-related sudden cardiac death in young adults. Am Heart J 121:568-575
15. Carturan E, Tester DJ, Thiene G, Ackerman MJ (2006) Evaluation of different DNA extraction methods in archival heart tissue for postmortem mutational analysis (abstract 1518). Mod Pathol 19:325A-326A
16. Chen PS, Priori SG (2008) The Brugada syndrome. J Am Coll Cardiol 51:1176-1180
17. Chugh SS, Kelly KL, Titus JL (2000) Sudden cardiac death with apparently normal heart. Circulation 102:649-654 (Pubitemid 30640665)
18. Chugh SS, Senashova O, Watts A, Tran PT, Zhou Z, Gong Q, Titus JL, Hayflick SJ (2004) Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol 43:1625-1629 (Pubitemid 38561345)
19. Corrado D, Basso C, Thiene G (2001) Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 50:399-408 (Pubitemid 32382167)
20. Cote A, Russo P, Michaud J (1999) Sudden unexpected deaths in infancy: what are the causes? J Pediatr 135:437-443 (Pubitemid 30180471)
21. Creighton W, Virmani R, Kutys R, Burke A (2006) Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn 8:62-67 (Pubitemid 43257435)
22. Crotti L (2011) Genetic predisposition to sudden cardiac death. Curr Opin Cardiol 26:46-50
23. di Gioia CRT, Autore C, Romeo DM, Ciallella C, Aromatario MR, Lopez A, Pagannone E, Giordano C, Gallo P, d'Amati G (2006) Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine. Hum Pathol 37:794-801 (Pubitemid 43902954)
24. Di Paolo M, Luchini D, Bloise R, Priori SG (2004) Postmortem molecular analysis in victims of sudden unexplained death. Am J Forensic Med Pathol 25:182-184 (Pubitemid 38702550)
25. Doolan A, Langlois N, Semsarian C (2004) Causes of sudden cardiac death in young Australians. Med Aust 180:110-112 (Pubitemid 38173103)
26. Dwyer T, Ponsonby AL, Blizzard L, Newman NM, Cochrane JA (1995) The contribution of changes in the prevalence of prone sleeping position to the decline in sudden infant death syndrome in Tasmania. JAMA 273:783-789
27. Eckart RE, Scoville SL, Campbell CL, Shry EA, Stajduhar KC, Potter RN, Pearse LA, Virmani R (2004) Sudden death in young adults: a 25-year review of autopsies in military recruits. Ann Intern Med 141:829-834 (Pubitemid 39601175)
28. Eldar M, Pras E, Lahat H (2003) A missense mutation in the CASQ2 gene is associated with autosomal-secessive catechol-amine-induced polymorphic ventricular tachycardia. Trends Cardiovasc Med 13:148-151 (Pubitemid 36547683)
29. Fabre A, Sheppard MN (2006) Sudden adult death syndrome and other nonischaemic causes of sudden cardiac death. Heart 92:316-320
30. Filiano JJ, Kinney HC (1994) A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model. Biol Neonate 65:194-197 (Pubitemid 24118004)
31. Fleming PJ, Blair PS, Bacon C, Bensley D, Smith I, Taylor E, Berry J, Golding J, Tripp J (1996) Environment of infants during sleep and risk of the sudden infant death syndrome: results of 1993-1995 case-control study for confidential inquiry into stillbirths and deaths in infancy. Confidential Enquiry Into Stillbirths and Deaths Regional Coordinators and Researchers (see comment). BMJ 313:191-195 (Pubitemid 26248684)
32. Getahun D, Amre D, Rhoads GG, Demissie K (2004) Maternal and obstetric risk factors for sudden infant death syndrome in the United States. Obstet Gynecol 103:646-652 (Pubitemid 40459022)
33. Gladding PA, Evans CA, Crawford J, Chung SK, Vaughan A, Webster D, Neas K, Love DR, Rees MI, Shelling AN, Skinner JR (2010) Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm 7:481-486
34. Goldenberg I, Moss AJ, Zareba W (2005) Sudden cardiac death without structural heart disease: update on the long QT and Brugada syndromes. Curr Cardiol Rep 7:349-356 (Pubitemid 41419350)
35. Guntheroth WG (1989) Theories of cardiovascular causes in sudden infant death syndrome. J Am Coll Cardiol 14:443-447 (Pubitemid 19199770)
36. Hoffman HJ, Hillman LS (1992) Epidemiology of the sudden infant death syndrome: maternal, neonatal, and postneonatal risk factors. Clin Perinatol 19:717-737 (Pubitemid 23006258)
37. Hoffman HJ, Damus K, Hillman L, Krongrad E (1988) Risk factors for SIDS. results of the National Institute of Child Health and Human Development SIDS Cooperative Epidemiological Study. Ann N Y Acad Sci 533:13-30
38. Kanda I, Endo M (1997) Coronary artery spasm: a hypothesis on prevention by progesterone. Med Hypotheses 49:183-185 (Pubitemid 27316540)
39. Kinney HC, Thach BT (2009) The sudden infant death syndrome. N Engl J Med 361:795-805
40. Lahat H, Eldar M, Levy-Nissenbaum E et al (2001) Autosomal recessive catecholamine-or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 103:2822-2827 (Pubitemid 32550071)
41. Laitinen PJ, Brown KM, Piippo K, Swam H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K, Nava A, Bagattin A, Stanchi F, Larderet G, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A (2001) Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103:485-490 (Pubitemid 32116230)
42. Lee A, Ackerman MJ (2003) Sudden unexplained death: evaluation of those left behind. Lancet 362:1429-1431 (Pubitemid 37352875)
43. Liberthson RR (1996) Sudden death from cardiac causes in children and young adults. N Engl J Med 334:1039-1044 (Pubitemid 26124453)
44. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO (1996) Sudden death in young competitive athletes: clinical, demographic, and pathological profiles (see comment). JAMA 276:199-204 (Pubitemid 26235063)
45. Michaud K, Fellmann F, Abriel H, Beckmann JS, Mangin P, Elger BS (2009) 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 Weekly 139:712-718
46. Morentin B, Suarez-Mier MP, Aguilera B (2003) Sudden unexplained death among persons 1-35 years old. Forensic Sci Int 135:213-217 (Pubitemid 36961463)
47. Moss AJ, Robinson J (1992) Clinical features of the idiopathic long QT syndrome. Circulation 85:I140-I144
48. Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice (see comment). JAMA 294:2975-2980 (Pubitemid 41817658)
49. Nishio H, Iwata M, Suzuki K (2006) Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420 W mutated case with characteristics of status thymico-lymphatics. Circ J 70:1402-1406 (Pubitemid 44672894)
50. Ponsonby AL, Dwyer T, Gibbons LE, Cochrane JA, Wang YG (1993) Factors potentiating the risk of sudden infant death syndrome associated with the prone position (see comment). N Eng J Med 329:377-382 (Pubitemid 23219341)
51. Priori SG, Napolitano C, Schwartz PJ (1999) Low penetrance in the long QT syndrome: clinical impact. Circulation 99:529-533 (Pubitemid 29061868)
52. Priori SG, Napolitano C, Giordano U, Collisani G, Memmi M (2000) Brugada syndrome and sudden cardiac death in children. Lancet 355:808-809 (Pubitemid 30128825)
53. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA (2001) Mutations in the cardiac ryan-odine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103:196-200 (Pubitemid 32095402)
54. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, DeSimone L, Coltorti F, Bloise R, Keegan R, Cruz FES, Vignati G, Benatar A, DeLogu A (2002) Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 106:69-74 (Pubitemid 34747444)
55. Puranik R, Chow CK, Duflou JA, Kilborn MJ, McGuire MA (2005) Sudden death in the young. Heart Rhythm 2:1277-1282 (Pubitemid 43055408)
56. Ruan Y, Liu N, Priori SG (2009) Sodium channel mutations and arrhythmias. Nat Rev Cardiol 6:337-348
57. Shimizu W (2008) Clinical impact of genetic studies in lethal inherited cardiac arrhythmias. Circ J 72:1926-1936
58. Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans C-A, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR, Cardiac Inherited Disease Group of New Zealand (2011) Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1-to 40-year-olds. Heart Rhythm 8:412-419
59. Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA (2005) Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 112:207-213 (Pubitemid 40982303)
60. Tester DJ, Ackerman MJ (2005) Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 67:388-396 (Pubitemid 41024866)
61. Tester DJ, Ackerman MJ (2006) The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol 21:166-172 (Pubitemid 44315078)
62. Tester DJ, Ackerman MJ (2007) Postmortem long QT syndrome genetic testing for sudden unexplained death in the young (see comment). J Am Coll Cardiol 49:240-246 (Pubitemid 46054388)
63. Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ (2004) Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc 79:1380-1384 (Pubitemid 39453301)
64. Tester DJ, Kopplin LJ, Will ML, Ackerman MJ (2005) Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm 2:1099-1105 (Pubitemid 41472159)
65. Tester DJ, Will ML, Haglund CM, Ackerman MJ (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2:507-517 (Pubitemid 40521365)
66. Valdes-Dapena MA (1973) Editorial: sudden, unexpected and unexplained death in infancy: a status report-1973. N Engl J Med 289:1195-1197
67. van der Werf C, Hofman N, Tan HL, van Dessel PF, Alders M, van der Wal AC, van Langen IM, Wilde AAM (2010) 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 7:1383-1389
68. Vincent GM, Timothy KW, Leppert M, Keating M (1992) The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome. N Engl J Med 327:846-852
69. Vincent GM, Timothy K, Fox J, Zhang L (1999) The inherited long QT syndrome: from ion channel to bedside. Cardiol Rev 7:44-55 (Pubitemid 29038450)
70. Virmani R, Burke AP, Farb A (2001) Sudden cardiac death. Cardiovasc Pathol 10:275-282
71. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM (2007) Sudden infant death syndrome: review of implicated genetic factors. Am J Med Genet 143:771-788 (Pubitemid 46556162)
72. Wever EF, Robles de Medina EO (2004) Sudden death in patients without structural heart disease. J Am Coll Cardiol 43:1137-1144 (Pubitemid 38452586)
73. Willinger M, James LS, Catz C (1991) Defining the sudden infant death syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development. Pediatr Pathol 11:677-684
74. Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL, Bundgaard H, Svendsen JH, Haunso S, Tfelt-Hansen J (2011) Nationwide study of sudden cardiac death in persons aged 1-35 years. Eur Heart J 32:983-990
75. Wisten A, Forsberg H, Krantz P, Messner T (2002) Sudden cardiac death in 15-to 35-year-olds in Sweden during 1992-1999. J Intern Med 252:529-536 (Pubitemid 35454330)
76. Yun AJ, Lee PY (2004) Sudden death among infants and adults: companion disorders of maladaptive sympathetic bias. Med Hypotheses 62:857-860 (Pubitemid 38680347)