State of the art in forensic investigation of sudden cardiac death

American Journal of Forensic Medicine and Pathology

Volumn 32, Issue 1, 2011, Pages 1-16

  Oliva, Antonio ^a   Brugada, Ramon ^b   D'Aloja, Ernesto ^c   Boschi, Ilaria ^a   Partemi, Sara ^a   Brugada, Josep ^d   Pascali, Vincenzo L ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF GIRONA   (Spain)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d UNIVERSITY OF BARCELONA   (Spain)

Author keywords

autopsy; cardiac arrest; cardiomyopathy; molecular autopsy; postmortem genetic analysis; risk factor; sudden cardiac death; ventricular tachyarrhythmia

Indexed keywords

MESSENGER RNA;

ANAMNESIS; AUTOPSY; BILE; BLOOD ANALYSIS; BLOOD VESSEL; CHEMISTRY; ELECTRON MICROSCOPY; FAMILY HEALTH; FORENSIC PATHOLOGY; FORENSIC TOXICOLOGY; HAIR; HEART DISEASE; HEART MUSCLE; HEART VALVE; HUMAN; IMMUNOHISTOCHEMISTRY; METABOLISM; METHODOLOGY; NUCLEOTIDE SEQUENCE; ORGAN SIZE; PATHOLOGY; PRACTICE GUIDELINE; REVIEW; SARCOIDOSIS; STAINING; STANDARD; SUDDEN DEATH; URINE;

AUTOPSY; BILE; BLOOD CHEMICAL ANALYSIS; BLOOD VESSELS; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FORENSIC PATHOLOGY; FORENSIC TOXICOLOGY; HAIR; HEART DISEASES; HEART VALVES; HUMANS; IMMUNOHISTOCHEMISTRY; MEDICAL HISTORY TAKING; MICROSCOPY, ELECTRON; MYOCARDIUM; ORGAN SIZE; PRACTICE GUIDELINES AS TOPIC; RNA, MESSENGER; SARCOIDOSIS; STAINING AND LABELING; URINE;

EID: 79951762081     PISSN: 01957910     EISSN: None     Source Type: Journal    
DOI: 10.1097/PAF.0b013e3181c2dc96     Document Type: Review

References (99)

1. Gillum RF. Sudden coronary death (Pubitemid 19100534)
2. Myerburg RJ, Castellanos A. Cardiac arrest and sudden cardiac death. In: Braunwald E, ed. Heart Disease: A Textbook of Cardiovascular Medicine. Philadelphia, PA: Saunders; 2001:890-931.
3. Zheng ZJ, Croft JB, Giles WH, et al. Sudden cardiac death in the United States, 1989 to 1998. Circulation. 2001;104:2158-2163. (Pubitemid 33043293)
4. Becker LB, Smith DW, Rhodes KV. Incidence of cardiac arrest: a neglected factor in evaluating survival rates. Ann Emerg Med. 1993; 22:86-91. (Pubitemid 23016459)
5. Priori SG, Aliot E, Blomstrom-Lundqvist C, et al. Task force on sudden cardiac death of the European Society of Cardiology. Eur Heart J. 2001;22:1374-1450. (Pubitemid 32771346)
6. Corrado D, Basso C, Pavei A, et al. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA. 2006;296:1593-1601. (Pubitemid 44515020)
7. Goldstein S. The necessity of a uniform definition of sudden coronary death: witnessed death within 1 hour of the onset of acute symptoms. Am Heart J. 1982;103:156-159. (Pubitemid 12202972)
8. Virmani R, Burke AP, Farb A. Sudden cardiac death. Cardiovasc Pathol. 2001;10:211-218. (Pubitemid 32982881)
9. Basso C, Calabrese F, Corrado D, et al. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc Res. 2001;50:290-330.
10. Brinkmann B. Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe. Int J Legal Med. 1999;113:1-14.
11. Davies MJ. The investigation of sudden cardiac death. Histopathology. 1999;34:93-98. (Pubitemid 29083208)
12. Royal College of Pathologists. Guidelines on autopsy practice 2005, scenario 1: sudden death with likely cardiac pathology. 2005:1-7. Available at: http://www.rcpath.org/index.asp?PageID=687.
13. Sheppard M, Davies MJ. Investigation of sudden cardiac death. In: Sheppard M, Davies MJ, eds. Practical Cardiovascular Pathology. London: Arnold; 1998:191-204.
14. Thiene G, Basso C, Corrado D. Cardiovascular causes of sudden death. In: Silver MD, Gotlieb AI, Schoen FJ, eds. Cardiovascular Pathology. Philadelphia, PA: Churchill Livingstone; 2001:326-374.
15. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome: a multicenter report. J Am Coll Cardiol. 1992;20:1391-1396.
16. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392: 293-296. (Pubitemid 28155103)
17. Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002;105:1342-1347. (Pubitemid 34260426)
18. Behr E, Wood DA, Wright M, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362:1457.
19. Chugh SS, Kelley KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation. 2000;102:649-654. (Pubitemid 30640665)
20. Chase DL. [PhD thesis]. Southampton, United Kingdom: University of Southampton; 2006.
21. Di Gioia C, Autore C, Romeo D, et al. Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine. Hum Pathol. 2006;37:794-801. (Pubitemid 43902954)
22. Gallagher PJ. The pathologic investigation of sudden death. Curr Diagn Pathol. 2007;13:366-374.
23. Wren C, O'Sullivan JJ, Wright C. Sudden death in children and adolescents. Heart. 2000;84:410-413. (Pubitemid 30316754)
24. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res. 2001;50:399-408. (Pubitemid 32382167)
25. Maron BJ. Sudden death in young athletes. N Engl J Med. 2003;349: 1064-1075. (Pubitemid 37098275)
26. Fornes P, Lecompte D. Pathology of sudden death durino recreational sports activity: an autopsy study of 31 cases. Am J Forensic Med Path. 2003;24:9-16. (Pubitemid 36268433)
27. Henriques de Gouveia R, van der Wal AC, van der Loos CM, et al. Sudden unexpected death in young adults. Discrepancies between initiation of acute plaque complications and the onset of acute coronary death. Eur Heart J. 2002;23:1433-1440.
28. Doolan A, Langois N, Semsarian C. Causes of sudden death in young Australians. Med J Aust. 2004;18:110-112. (Pubitemid 38173103)
29. Leach IH, Blundell JW, Rowley JM, et al. Acute ischaemic lesions in death due to ischaemic heart disease: an autopsy study of 333 out of hospital deaths. Eur Heart J. 1995;16:1181-1185.
30. Burke AP, Farb A, Malcolm GT, et al. Coronary risk factor and plaque morphology in men with coronary disease who died suddenly. N Engl J Med. 1997;336:1276-1282. (Pubitemid 27187780)
31. Bowker TJ, Wood DA, Davies MJ, et al. Sudden, unexpected cardiac or unexplained death in England: a national survey. Q J Med. 2003; 96:269-279. (Pubitemid 36432386)
32. Fabre A, Sheppard MN. Sudden adult death syndrome an other non-ischaemic causes of sudden cardiac death. Heart. 2006;92: 316-320.
33. Cohle SD, Sampson BA. The negative autopsy. Sudden cardiac death or other. Cardiovasc Pathol. 2001;10:271-274.
34. Finkbeiner WE, Ursell PC, Davis RL. Basic Post-Mortem Examination in Autopsy Pathology. A Manual and Atlas. Philadelphia, PA: Churchill Livingstone; 2004;41-65.
35. Basso C, Burke M, Fornes P, et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2008;452:11-18.
36. Saukko P, Knight B. The pathology of sudden death. In: Knight's Forensic Pathology. 3rd ed. London: Edward Arnold; 2004:492-526.
37. Kitzman DW, Scholz DG, Hagen PT, et al. Age-related changes in normal human hearts during the first 10 decades of life. Part II (maturity): a quantitative anatomic study of 765 specimens from subjects 20 to 99 years old. Mayo Clin Proc. 1988;63:137-146. (Pubitemid 18064283)
38. Scholz DG, Kitzman DW, Hagen PT, et al. Age-related changes in normal human hearts during the first 10 decades of life. Part I (growth): a quantitative anatomic study of 200 specimens from subjects from birth to 19 years old. Mayo Clin Proc. 1988;63:126-136. (Pubitemid 18064282)
39. Schulz DM, Giordano DA. Hearts of infants and children: weights and measurements. Arch Pathol. 1962;73:464-471.
40. Medical Devices Agency Safety Notice 2002(35). Removal of implantable cardioverter defibrillators (ICDs); 2002:1-3. Available at: http://www. mhra.gov.uk/home/idcplg?IdcService=SS-GET-PAGE&useSecondary= true&ssDocName=CON008731&ssTargetNodeId=420.
41. SOFT and AAFS (2002) Forensic toxicology laboratory guidelines; 2002:1-23. Available at: www.soft-tox.org/docs/Guidelines. 2002.final.pdf.
42. Carturan E, Tester DJ, Brost BB, et al. Postmortem genetic testing for conventional autopsy negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin embedded heart tissue. Am J Clin Pathol. In press.
43. Chugh SS, Senashova O, Watts A, et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol. 2004;43:1625-1629. (Pubitemid 38561345)
44. Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 2006;21:166-172. (Pubitemid 44315078)
45. Shang LL, Pfahnl AE, Sanyal S, et al. Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel. Circ Res. 2007;101:1146-1154. (Pubitemid 350146441)
46. Kannel WB, Cupples LA, D'Agostino RB. Sudden death risk in overt coronary heart disease: the Framingham Study. Am Heart J. 1987;113:799-804. (Pubitemid 17036732)
47. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation. 1998;98: 2334-2351. (Pubitemid 28533855)
48. Weaver WD, Lorch GS, Alvarez HA, et al. Angiographic findings and prognostic indicators in patients resuscitated from sudden cardiac death. Circulation. 1976;54:895-900.
49. Perper JA, Kuller LH, Cooper M. Arteriosclerosis of coronary arteries in sudden unexpected deaths. Circulation. 1975;52(suppl 6): III27-III33.
50. Theroux P, Fuster V. Acute coronary syndromes: unstable angina and non-Q-wave myocardial infarction. Circulation. 1998;97:1195-1206. (Pubitemid 28152893)
51. Huikuri HV, Castellanos A, Myerburg RJ. Sudden death due to cardiac arrhythmias. N Engl J Med. 2001;345:1473-1482.
52. Basso C, Corrado D, Thiene G. Congenital coronary artery anomalies as an important cause of sudden death in the young. Cardiol Rev. 2001;9:312-317. (Pubitemid 33091524)
53. Schwartz PJ, La Rovere MT, Vanoli E. Autonomic nervous system and sudden cardiac death: experimental basis and clinical observations for post-myocardial infarction risk stratification. Circulation. 1992; 85(suppl 1):I77-I91.
54. Cittadini F, Oliva A, Arena V, et al. Sudden cardiac death associated with a coronary artery anomaly considered benign. Int J Cardiol. In press.
55. Corrado D, Thiene G, Cocco P, et al. Non-atherosclerotic coronary artery disease and sudden death in the young. Br Heart J. 1992;68: 601-607. (Pubitemid 23001739)
56. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation. 1996;93:841-842. (Pubitemid 26074816)
57. Hughes SE, McKenna WJ. New insights into the pathology of inherited cardiomyopathy [review]. Heart. 2005;91:257-264.
58. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287:1308-1320. (Pubitemid 34250486)
59. Rosenbaum DS, Jackson LE, Smith JM, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on clinical expert consensus documents and the European Society of cardiology committee for practice guidelines. J Am Coll Cardiol. 2003;42: 1687-1713.
60. Braunwald E, Wynne J. The cardiomyopathies and myocarditides. In: Heart Disease: A Textbook of Cardiovascular Medicine. 5th ed. Philadelphia, PA: WB Saunders; 1997:1414-1426.
61. Codd MB, Sugrue DD, Gersh BJ, et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation. 1989;80: 564-572. (Pubitemid 19231390)
62. Roberts WC, McAllister HA Jr, Ferrans VJ. Sarcoidosis o the heart. A clinicopathologic study of 35 necropsy patients (group 1) and review of 78 previously described necropsy patients (group 11). Am J Med. 1977;63:86-108. (Pubitemid 8146656)
63. Moolman JC, Corfield VA, Posen B, et al. Sudden death due to troponin T mutations. J Am Coll Cardiol. 1997;29:549-555. (Pubitemid 27116096)
64. Maron BJ, Anan TJ, Roberts WC. Quantitative analysis of the distribution of cardiac muscle cell disorganization in the left ventricular wall of patients with hypertrophic cardiomyopathy. Circulation. 1981;63:882-894. (Pubitemid 11146904)
65. Scheffold T, Binner P, Erdmann J, et al. Hypertrophic cardiomyopathy. Herz. 2005;30:550-557. (Pubitemid 41372059)
66. Ackerman MJ, VanDriest SL, Ommen SR, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol. 2002;39: 2042-2048. (Pubitemid 34628288)
67. Basso C, Thiene G, Corrado D, et al. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy or myocarditis? Circulation. 1996;94:983-991. (Pubitemid 26292851)
68. Nava A, Thiene G, Canciani B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. JAm Coll Cardiol. 1988;12:1222-1228.
69. Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997;30:1512-1520. (Pubitemid 27486470)
70. Corrado D, Fontaine G, Marcus FI, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy; need for an international registry. Study group on arrhythmogenic right ventricular dysplasia/cardiomyopathy of the working groups of myocardial and pericardial disease and arrhythmias of the European Society of Cardiology and of the scientific council of cardio-myopathies of the World Heart Federation. Circulation. 2000;101:E101-E106.
71. De Pasquale CG, Heddle WF. Left sided arrhythmogenic ventricular dysplasia in siblings. Heart. 2001;86:128-130. (Pubitemid 32983470)
72. Gallo P, D'Amati G, Pelliccia F. Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol. 1992;23:948-952.
73. Burke A, Mont E, Kutys R, et al. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol. 2005;36:403-411. (Pubitemid 40591811)
74. D'Amati G, Leone O, Di Gioa CR, et al. Arrhythmogenic right ventricular cardiomyopathy: clinicopathologic correlation based on a revised definition of pathologic patterns. Hum Pathol. 2001;32:1078-1086. (Pubitemid 33015668)
75. Burke AP, Farb A, Tashko G, et al. Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases? Circulation. 1998;97: 1571-1580. (Pubitemid 28186185)
76. Norman M, Simpson M, Mogensen J, et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 2005;112:636-642. (Pubitemid 41099041)
77. Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493-500.
78. Ladich E, Virmani R, Burke A. Sudden cardiac death not related to coronary atherosclerosis. Toxicol Pathol. 2006;34:52-57. (Pubitemid 43323260)
79. Braunwald E, ed. Myocarditis. In: Heart Disease. 6th ed. 2001: 1783-1793.
80. Feldman AM, McNamara D. Myocarditis. N Engl J Med. 2000;343: 1388-1398.
81. Chan AC, Dickens P. Tuberculous myocarditis presenting as sudden cardiac death. Forensic Sci Int. 1992;57:45-49.
82. Dada MA, Lazarus NG, Kharsany ABM, et al. Sudden death caused by myocardial tuberculosis. Case report and review of the literature. Am J Forensic Med Pathol. 2000;21:385-388.
83. Martin AB, Webber S, Fricker FJ, et al. Acute myocarditis. Rapid diagnosis by PCR in children. Circulation. 1994;90:330-339. (Pubitemid 24203696)
84. Fenoglio JJ Jr, McAllister HA Jr, Mullick FG. Drug related myocarditis. I: Hypersensitivity myocarditis. Hum Pathol. 1981;12:900-907.
85. Burke AP, Saenger J, Mullick F, et al. Hypersensitivity myocarditis. Arch Pathol Lab Med 1991;115:764-769.
86. Kawai C. From myocarditis to cardiomyopathy: mechanisms of inflammation and cell death: learning from the past for the future. Circulation. 1999;99:1091-1100. (Pubitemid 29104501)
87. Kodama M, Matsumoto Y, Fujiwara M, et al. Characteristics of giant cells and factors related to the formation of giant cells in myocarditis. Circulation Res. 1991;69:1042-1050.
88. Litovsky SH, Burke AP, Virmani R. Giant cell myocarditis: an entity distinct from sarcoidosis characterized by multiphasic myocyte destruction by cytotoxic T cells and histiocytic giant cells. Mod Pathol. 1996;9:1126-1134. (Pubitemid 27023591)
89. Silverman KJ, Hutchins GM, Bulkley BH. Cardiac sarcoid: a clinico- pathologic study of 84 unselected patients with systemic sarcoidosis. Circulation. 1978;58:1204-1211. (Pubitemid 9092005)
90. Maron BJ, Shirani J, Poliac LC, et al. Sudden death in young competitive athletes: clinical, demographic, and pathological profiles. JAMA. 1996;276:199-204. (Pubitemid 26235063)
91. Puranik R, Chow CK, Duflou JA, et al. Sudden death in the young. Heart Rhythm 35. 2005;2:1277-1282. (Pubitemid 43055408)
92. Eckart RE, Scoville SL, Campbell CL, et al. Sudden death in young adults: a 25-year review of autopsies in military recruits. Ann Intern Med. 2004;141:829-834. (Pubitemid 39601175)
93. Liberthson RR. Sudden death from cardiac causes in children and young adults. N Engl J Med. 1996;334:1039-1044. (Pubitemid 26124453)
94. Lehnart SE, Ackerman MJ, Benson DWJr, et al. Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function [Erratum in: Circulation. 2008;118:e132]. Circulation. 2007;116:2325-2345. (Pubitemid 350100339)
95. Oliva A, Pascali VL, Hong K, et al. Molecular autopsy of sudden cardiac death (SCD): the challenge of forensic pathologist to the complexity of genomics. Am J Forensic Med Pathol. 2005;26: 369-370. (Pubitemid 44357141)
96. Oliva A, D'Aloja E, Pascali VL. Focussing on hard science in forensic medicine: genetics of sudden cardiac death (SCD). Forensic Sci Int. 2007;172:e2-e3. (Pubitemid 47361588)
97. Michaud K, Lesta Mdel M, Fellmann F, et al. Molecular autopsy of sudden cardiac death: from postmortem to clinical approach. Rev Med Suisse. 2008;4:1590-1593. (Pubitemid 352006894)
98. Tester DJ, Spoon DB, Valdivia HH, et al. 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. 2004;79:1380-1384. (Pubitemid 39453301)
99. Oliva A, Bjerregaard P, Hong K, et al. Clinical heterogeneity in sodium channelopathies. What is the meaning of carrying a genetic mutation? Cardiology. 2008;110:116-122. (Pubitemid 351630037)