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Volumn 8, Issue 12, 2007, Pages 752-759

Molecular investigation of sudden death;Autopsia molecolare nella morte improvvisa

Author keywords

Autopsy; Mutational analysis; Myocarditis; Sudden death

Indexed keywords

AUTOPSY; BRUGADA SYNDROME; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HEART DEATH; HEART INFARCTION; HUMAN; LONG QT SYNDROME; MOLECULAR GENETICS; MYOCARDITIS; POSITRON EMISSION TOMOGRAPHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; METABOLISM; MOLECULAR BIOLOGY; NEWBORN;

EID: 38449097892     PISSN: 18276806     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (6)

References (89)
  • 1
    • 18244377639 scopus 로고    scopus 로고
    • Evolving role of cardiovascular pathology in clinical and surgical decision making
    • Thiene G. Evolving role of cardiovascular pathology in clinical and surgical decision making. J Thorac Cardiovasc Surg 2005; 129: 966-9.
    • (2005) J Thorac Cardiovasc Surg , vol.129 , pp. 966-969
    • Thiene, G.1
  • 2
    • 0035040923 scopus 로고    scopus 로고
    • Postmortem diagnosis in sudden cardiac death victims: Macroscopic, microscopic and molecular findings
    • Basso C, Calabrese F, Corrado D, Thiene G. Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings. Cardiovasc Res 2001; 50: 290-300.
    • (2001) Cardiovasc Res , vol.50 , pp. 290-300
    • Basso, C.1    Calabrese, F.2    Corrado, D.3    Thiene, G.4
  • 3
    • 2642537857 scopus 로고    scopus 로고
    • Cardiovascular causes of sudden death
    • Silver MD, Gotlieb AI, Schoen FJ, eds, 3rd ed. Philadelphia, PA: Churchill Livingstone
    • Thiene G, Basso C, Corrado D. Cardiovascular causes of sudden death. In: Silver MD, Gotlieb AI, Schoen FJ, eds. Cardiovascular pathology. 3rd ed. Philadelphia, PA: Churchill Livingstone, 2001: 326-74.
    • (2001) Cardiovascular pathology , pp. 326-374
    • Thiene, G.1    Basso, C.2    Corrado, D.3
  • 4
    • 0020061594 scopus 로고
    • The necessity of a uniform definition of sudden coronary death: Witnessed death within 1 hour of the onset of acute symptoms
    • 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: 156-9.
    • (1982) Am Heart J , vol.103 , pp. 156-159
    • Goldstein, S.1
  • 5
    • 0032491031 scopus 로고    scopus 로고
    • Screening for hypertrophic cardiomyopathy in young athletes
    • Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998; 339: 364-9.
    • (1998) N Engl J Med , vol.339 , pp. 364-369
    • Corrado, D.1    Basso, C.2    Schiavon, M.3    Thiene, G.4
  • 6
    • 0242353624 scopus 로고    scopus 로고
    • Does sports activity enhance the risk of sudden death in adolescents and young adults?
    • Corrado D, Basso C, Rizzoli G, Schiavon M, Thiene G. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 2003; 42: 1964-6.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 1964-1966
    • Corrado, D.1    Basso, C.2    Rizzoli, G.3    Schiavon, M.4    Thiene, G.5
  • 7
    • 0035028796 scopus 로고    scopus 로고
    • Sudden cardiac death in young people with apparently normal heart
    • Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001: 50: 399-408.
    • (2001) Cardiovasc Res , vol.50 , pp. 399-408
    • Corrado, D.1    Basso, C.2    Thiene, G.3
  • 8
    • 0021934627 scopus 로고
    • Sudden and unexpected natural death in childhood and adolescence
    • Neuspiel DR, Kuller LH. Sudden and unexpected natural death in childhood and adolescence. JAMA 1985; 254: 1321-5.
    • (1985) JAMA , vol.254 , pp. 1321-1325
    • Neuspiel, D.R.1    Kuller, L.H.2
  • 9
    • 0021813702 scopus 로고
    • Pathologic features of sudden death in children, adolescents, and young adults
    • Topaz O, Edwards JE. Pathologic features of sudden death in children, adolescents, and young adults. Chest 1985; 87: 476-82.
    • (1985) Chest , vol.87 , pp. 476-482
    • Topaz, O.1    Edwards, J.E.2
  • 11
    • 0025748647 scopus 로고
    • Sudden unexpected death in persons less than 40 years of age
    • Drory Y, Turetz Y, Hiss Y, et al. Sudden unexpected death in persons less than 40 years of age. Am J Cardiol 1991; 68: 1388-92.
    • (1991) Am J Cardiol , vol.68 , pp. 1388-1392
    • Drory, Y.1    Turetz, Y.2    Hiss, Y.3
  • 12
    • 0036457169 scopus 로고    scopus 로고
    • Sudden cardiac death in 15-35-year olds in Sweden during 1992-99
    • Wisten A, Forsberg H, Krantz P, Messner T. Sudden cardiac death in 15-35-year olds in Sweden during 1992-99. J Intern Med 2002; 252: 529-36.
    • (2002) J Intern Med , vol.252 , pp. 529-536
    • Wisten, A.1    Forsberg, H.2    Krantz, P.3    Messner, T.4
  • 13
    • 0242542026 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy and sudden cardiac death in young Koreans
    • Cho Y, Park T, Yang DH, et al. Arrhythmogenic right ventricular cardiomyopathy and sudden cardiac death in young Koreans. Circ J 2003; 67: 925-8.
    • (2003) Circ J , vol.67 , pp. 925-928
    • Cho, Y.1    Park, T.2    Yang, D.H.3
  • 14
    • 0842330519 scopus 로고    scopus 로고
    • Causes of sudden cardiac death in young Australians
    • Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Aust 2004; 180: 110-2.
    • (2004) Med J Aust , vol.180 , pp. 110-112
    • Doolan, A.1    Langlois, N.2    Semsarian, C.3
  • 15
    • 10044237875 scopus 로고    scopus 로고
    • Sudden death in young adults: A 25-year review of autopsies in military recruits
    • 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: 829-34.
    • (2004) Ann Intern Med , vol.141 , pp. 829-834
    • Eckart, R.E.1    Scoville, S.L.2    Campbell, C.L.3
  • 17
    • 33745167259 scopus 로고    scopus 로고
    • Sudden cardiac death in younger adults: Autopsy diagnosis as a tool for preventive medicine
    • di Gioia CR, Autore C, Romeo DM, et al. Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine. Hum Pathol 2006; 37: 794-801.
    • (2006) Hum Pathol , vol.37 , pp. 794-801
    • di Gioia, C.R.1    Autore, C.2    Romeo, D.M.3
  • 18
    • 4644233218 scopus 로고    scopus 로고
    • Mortality due to sudden infant death syndrome in Northern Italy, 1990-2000: A baseline for the assessment of prevention campaigns
    • Montomoli C, Monti MC, Stramba-Badiale M, et al. Mortality due to sudden infant death syndrome in Northern Italy, 1990-2000: a baseline for the assessment of prevention campaigns. Paediatr Perinat Epidemiol 2004; 18: 336-43.
    • (2004) Paediatr Perinat Epidemiol , vol.18 , pp. 336-343
    • Montomoli, C.1    Monti, M.C.2    Stramba-Badiale, M.3
  • 20
    • 0035018707 scopus 로고    scopus 로고
    • Review of risk factors for sudden infant death syndrome
    • Sullivan FM, Barlow SM. Review of risk factors for sudden infant death syndrome. Paediatr Perinat Epidemiol 2001; 15: 144-200.
    • (2001) Paediatr Perinat Epidemiol , vol.15 , pp. 144-200
    • Sullivan, F.M.1    Barlow, S.M.2
  • 22
    • 0034276549 scopus 로고    scopus 로고
    • Sudden infant death syndrome in 2000
    • Hauck FR, Hunt CE. Sudden infant death syndrome in 2000. Curr Probl Pediatr 2000; 30: 237-61.
    • (2000) Curr Probl Pediatr , vol.30 , pp. 237-261
    • Hauck, F.R.1    Hunt, C.E.2
  • 23
    • 0017264676 scopus 로고
    • Cardiac sympathetic innervation and the sudden infant death syndrome: A possible pathogenic link
    • Schwartz PJ. Cardiac sympathetic innervation and the sudden infant death syndrome: a possible pathogenic link. Am J Med 1976; 60: 167-72.
    • (1976) Am J Med , vol.60 , pp. 167-172
    • Schwartz, P.J.1
  • 24
    • 17144450747 scopus 로고    scopus 로고
    • Prolongation of the QT interval and the sudden infant death syndrome
    • Schwartz PJ, Stramba-Badiale M, Segantini A, et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 1998; 338: 1709-14.
    • (1998) N Engl J Med , vol.338 , pp. 1709-1714
    • Schwartz, P.J.1    Stramba-Badiale, M.2    Segantini, A.3
  • 25
    • 0029864693 scopus 로고    scopus 로고
    • Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies
    • Richardson P, McKenna, 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: 841-2.
    • (1996) Circulation , vol.93 , pp. 841-842
    • Richardson, P.1    McKenna, B.M.2
  • 26
    • 0642342941 scopus 로고    scopus 로고
    • Myocarditis and inflammatory cardiomyopathy: Microbiological and molecular biological aspects
    • Calabrese F, Thiene G. Myocarditis and inflammatory cardiomyopathy: microbiological and molecular biological aspects. Cardiovasc Res 2003; 60: 11-25.
    • (2003) Cardiovasc Res , vol.60 , pp. 11-25
    • Calabrese, F.1    Thiene, G.2
  • 27
    • 0026628061 scopus 로고
    • Myocarditis caused by Chlamydia pneumoniae (TWAR) and sudden unexpected death in a Swedish elite orienteer
    • Wesslen L, Pahlson C, Friman G, Fohlman J, Lindquist O, Johansson C. Myocarditis caused by Chlamydia pneumoniae (TWAR) and sudden unexpected death in a Swedish elite orienteer. Lancet 1992; 340: 427-8.
    • (1992) Lancet , vol.340 , pp. 427-428
    • Wesslen, L.1    Pahlson, C.2    Friman, G.3    Fohlman, J.4    Lindquist, O.5    Johansson, C.6
  • 28
    • 0030005382 scopus 로고    scopus 로고
    • An increase in sudden unexpected cardiac deaths among young Swedish orienteers during 1979-1992
    • Wesslen L, Pahlson C, Lindquist O, et al. An increase in sudden unexpected cardiac deaths among young Swedish orienteers during 1979-1992. Eur Heart J 1996; 17: 902-10.
    • (1996) Eur Heart J , vol.17 , pp. 902-910
    • Wesslen, L.1    Pahlson, C.2    Lindquist, O.3
  • 29
    • 17844372983 scopus 로고    scopus 로고
    • Subacute Bartonella infection in Swedish orienteers succumbing to sudden unexpected cardiac death or having malignant arrhythmias
    • Wesslen L, Ehrenborg C, Holmberg M, et al. Subacute Bartonella infection in Swedish orienteers succumbing to sudden unexpected cardiac death or having malignant arrhythmias. Scand J Infect Dis 2001; 33: 429-38.
    • (2001) Scand J Infect Dis , vol.33 , pp. 429-438
    • Wesslen, L.1    Ehrenborg, C.2    Holmberg, M.3
  • 30
    • 0033517485 scopus 로고    scopus 로고
    • Association of Rickettsia helvetica with chronic perimyocarditis in sudden cardiac death
    • Nilsson K, Lindquist O, Pahlson C. Association of Rickettsia helvetica with chronic perimyocarditis in sudden cardiac death. Lancet 1999; 354: 1169-73.
    • (1999) Lancet , vol.354 , pp. 1169-1173
    • Nilsson, K.1    Lindquist, O.2    Pahlson, C.3
  • 31
    • 0036734920 scopus 로고    scopus 로고
    • Histologic and in situ viral findings in the myocardium in cases of sudden, unexpected death
    • Cioc AM, Nuovo GJ. Histologic and in situ viral findings in the myocardium in cases of sudden, unexpected death. Mod Pathol 2002; 15: 914-22.
    • (2002) Mod Pathol , vol.15 , pp. 914-922
    • Cioc, A.M.1    Nuovo, G.J.2
  • 32
    • 21744434374 scopus 로고    scopus 로고
    • Epstein-Barr virus myocarditis as a cause of sudden death: Two autopsy cases
    • Ishikawa T, Zhu BL, Li DR, Zhao D, Maeda H. Epstein-Barr virus myocarditis as a cause of sudden death: two autopsy cases. Int J Legal Med 2005; 119: 231-5.
    • (2005) Int J Legal Med , vol.119 , pp. 231-235
    • Ishikawa, T.1    Zhu, B.L.2    Li, D.R.3    Zhao, D.4    Maeda, H.5
  • 33
    • 17144425015 scopus 로고    scopus 로고
    • Coxsackievirus B3 sequences in the myocardium of fatal cases in a cluster of acute myocarditis in Greece
    • Spanakis N, Manolis EN, Tsakris A, et al. Coxsackievirus B3 sequences in the myocardium of fatal cases in a cluster of acute myocarditis in Greece. J Clin Pathol 2005; 58: 357-60.
    • (2005) J Clin Pathol , vol.58 , pp. 357-360
    • Spanakis, N.1    Manolis, E.N.2    Tsakris, A.3
  • 34
    • 30644460332 scopus 로고    scopus 로고
    • Molecular diagnosis of acute myocarditis causing sudden death in young people. (abstr)
    • Basso C, Carturan E, Calabrese F, Thiene G. Molecular diagnosis of acute myocarditis causing sudden death in young people. (abstr) Mod Pathol 2005; 18: 57A.
    • (2005) Mod Pathol , vol.18
    • Basso, C.1    Carturan, E.2    Calabrese, F.3    Thiene, G.4
  • 35
    • 4944255538 scopus 로고    scopus 로고
    • Cardiomyopathies: Is it time for a molecular classification?
    • Thiene G, Corrado D, Basso C. Cardiomyopathies: is it time for a molecular classification? Eur Heart J 2004; 25: 1772-5.
    • (2004) Eur Heart J , vol.25 , pp. 1772-1775
    • Thiene, G.1    Corrado, D.2    Basso, C.3
  • 36
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001; 103: 89-95.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 37
    • 0000819933 scopus 로고
    • Aritmie cardiache rare in età pediatrica
    • Romano C, Gemme C, Pongiglione R. Aritmie cardiache rare in età pediatrica. Clin Ped 1963; 45: 656-7.
    • (1963) Clin Ped , vol.45 , pp. 656-657
    • Romano, C.1    Gemme, C.2    Pongiglione, R.3
  • 38
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
    • Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957; 54: 59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 39
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12: 17-23.
    • (1996) Nat Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 41
    • 0029988774 scopus 로고    scopus 로고
    • Multiple mechanisms of Na+ channel-linked long-QT syndrome
    • Dumaine R, Wang Q, Keating M, et al. Multiple mechanisms of Na+ channel-linked long-QT syndrome. Circ Res 1996; 78: 916-24.
    • (1996) Circ Res , vol.78 , pp. 916-924
    • Dumaine, R.1    Wang, Q.2    Keating, M.3
  • 43
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia
    • Abbott GW, Sesti F, Splawsky I, et al. MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999; 97: 175-87.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawsky, I.3
  • 44
    • 34447307435 scopus 로고    scopus 로고
    • SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
    • Medeiros-Domingo A, Kaku T, Tester D J, et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007; 116: 134-42.
    • (2007) Circulation , vol.116 , pp. 134-142
    • Medeiros-Domingo, A.1    Kaku, T.2    Tester, D.J.3
  • 45
    • 0242464931 scopus 로고    scopus 로고
    • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • Mohler PJ, Schott JJ, Gramolini AO, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003; 421: 634-9.
    • (2003) Nature , vol.421 , pp. 634-639
    • Mohler, P.J.1    Schott, J.J.2    Gramolini, A.O.3
  • 46
    • 33751016041 scopus 로고    scopus 로고
    • Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    • Vatta M, Ackerman MJ, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006; 114: 2104-12.
    • (2006) Circulation , vol.114 , pp. 2104-2112
    • Vatta, M.1    Ackerman, M.J.2    Ye, B.3
  • 47
    • 29144494740 scopus 로고    scopus 로고
    • Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice
    • Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005; 294: 2975-80.
    • (2005) JAMA , vol.294 , pp. 2975-2980
    • Napolitano, C.1    Priori, S.G.2    Schwartz, P.J.3
  • 48
    • 33644853794 scopus 로고    scopus 로고
    • The Jervell and Lange-Nielsen syndrome: Natural history, molecular basis, and clinical outcome
    • Schwartz PJ, Spazzolini C, Crotti L, et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006; 113: 783-90.
    • (2006) Circulation , vol.113 , pp. 783-790
    • Schwartz, P.J.1    Spazzolini, C.2    Crotti, L.3
  • 49
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001; 105: 511-9.
    • (2001) Cell , vol.105 , pp. 511-519
    • Plaster, N.M.1    Tawil, R.2    Tristani-Firouzi, M.3
  • 50
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)I.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski I, Timothy KW, Sharpe LM, et al. Ca(V)I.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19-31.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3
  • 51
    • 0346727397 scopus 로고    scopus 로고
    • Sudden death associated with short-QT syndrome linked to mutations in HERG
    • Brugada R, Hong K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004; 109: 30-5.
    • (2004) Circulation , vol.109 , pp. 30-35
    • Brugada, R.1    Hong, K.2    Dumaine, R.3
  • 52
    • 2542491002 scopus 로고    scopus 로고
    • Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
    • Bellocq C, van Ginneken AC, Bezzina CR, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 2004; 109: 2394-7.
    • (2004) Circulation , vol.109 , pp. 2394-2397
    • Bellocq, C.1    van Ginneken, A.C.2    Bezzina, C.R.3
  • 53
    • 20244364402 scopus 로고    scopus 로고
    • A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
    • Priori SG, Pandit SV, Rivolta I, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 2005; 96: 800-7.
    • (2005) Circ Res , vol.96 , pp. 800-807
    • Priori, S.G.1    Pandit, S.V.2    Rivolta, I.3
  • 54
    • 0026466921 scopus 로고
    • Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
    • 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: 1391-6.
    • (1992) J Am Coll Cardiol , vol.20 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 56
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-6.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 57
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori SG, Napolitano C, Tiso N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103: 196-200.
    • (2001) Circulation , vol.103 , pp. 196-200
    • Priori, S.G.1    Napolitano, C.2    Tiso, N.3
  • 58
    • 0037047646 scopus 로고    scopus 로고
    • Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death
    • Jiang D, Xiao B, Zhang L, Chen SR. Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res 2002; 91: 218-25.
    • (2002) Circ Res , vol.91 , pp. 218-225
    • Jiang, D.1    Xiao, B.2    Zhang, L.3    Chen, S.R.4
  • 59
    • 0035205336 scopus 로고    scopus 로고
    • A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
    • Lahat H, Pras E, Olender T, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 2001; 69: 1378-84.
    • (2001) Am J Hum Genet , vol.69 , pp. 1378-1384
    • Lahat, H.1    Pras, E.2    Olender, T.3
  • 60
    • 0033533770 scopus 로고    scopus 로고
    • Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning
    • Ackerman MJ, Tester DJ, Porter CJ, Edwards WD. Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. N Engl J Med 1999; 341: 1121-5.
    • (1999) N Engl J Med , vol.341 , pp. 1121-1125
    • Ackerman, M.J.1    Tester, D.J.2    Porter, C.J.3    Edwards, W.D.4
  • 61
    • 2342440911 scopus 로고    scopus 로고
    • Postmortem molecular screening in unexplained sudden death
    • Chugh SS, Senashova O, Watts A, et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol 2004; 43: 1625-9.
    • (2004) J Am Coll Cardiol , vol.43 , pp. 1625-1629
    • Chugh, S.S.1    Senashova, O.2    Watts, A.3
  • 63
    • 7544230111 scopus 로고    scopus 로고
    • Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/ coroner's cases
    • Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ. 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: 1380-4.
    • (2004) Mayo Clin Proc , vol.79 , pp. 1380-1384
    • Tester, D.J.1    Spoon, D.B.2    Valdivia, H.H.3    Makielski, J.C.4    Ackerman, M.J.5
  • 64
    • 18544383162 scopus 로고    scopus 로고
    • Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    • Splawski I, Timothy KW, Tateyama M, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002; 297: 1333-6.
    • (2002) Science , vol.297 , pp. 1333-1336
    • Splawski, I.1    Timothy, K.W.2    Tateyama, M.3
  • 65
    • 2442657712 scopus 로고    scopus 로고
    • Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
    • Fodstad H, Swan H, Laitinen P, et al. Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med 2004; 36 (Suppl 1): 53-63.
    • (2004) Ann Med , vol.36 , Issue.SUPPL. 1 , pp. 53-63
    • Fodstad, H.1    Swan, H.2    Laitinen, P.3
  • 66
    • 33750348298 scopus 로고    scopus 로고
    • Postmortem long QT syndrome genetic testing for sudden unexplained death in the young
    • Tester D, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007; 49: 240-6.
    • (2007) J Am Coll Cardiol , vol.49 , pp. 240-246
    • Tester, D.1    Ackerman, M.J.2
  • 67
    • 23444460252 scopus 로고    scopus 로고
    • Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: Evidence of specific morphological substrates
    • d'Amati G, Bagattin A, Bauce B, et al. Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates. Hum Pathol 2005; 36: 761-7.
    • (2005) Hum Pathol , vol.36 , pp. 761-767
    • d'Amati, G.1    Bagattin, A.2    Bauce, B.3
  • 68
    • 32944473591 scopus 로고    scopus 로고
    • Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy
    • Creighton W, Virmani R, Kutys R, Burke A. Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn 2006; 8: 62-7.
    • (2006) J Mol Diagn , vol.8 , pp. 62-67
    • Creighton, W.1    Virmani, R.2    Kutys, R.3    Burke, A.4
  • 69
    • 48249146544 scopus 로고    scopus 로고
    • Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians
    • in press
    • Doolan A, Langlois N, Chiu C, Ingles J, Lind JM, Semsarian C. Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Int J Cardiol 2007, in press.
    • (2007) Int J Cardiol
    • Doolan, A.1    Langlois, N.2    Chiu, C.3    Ingles, J.4    Lind, J.M.5    Semsarian, C.6
  • 70
    • 48249149470 scopus 로고    scopus 로고
    • Diagnosi molecolare postmortem di mutazione nel gene RyR2 in giovane di 16 anni con arresto cardiaco da emozione: Impatto diagnostico e preventivo nei familiari. (abstr)
    • Carturan E, Michieli P, Bagattin A, et al. Diagnosi molecolare postmortem di mutazione nel gene RyR2 in giovane di 16 anni con arresto cardiaco da emozione: impatto diagnostico e preventivo nei familiari. (abstr) G Ital Cardiol 2006; 7 (Suppl 1-12): 114S.
    • (2006) G Ital Cardiol , vol.7 , Issue.SUPPL. 1-12
    • Carturan, E.1    Michieli, P.2    Bagattin, A.3
  • 71
    • 0037125396 scopus 로고    scopus 로고
    • Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of carriers
    • Bauce B, Rampazzo A, Basso C, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of carriers. J Am Coll Cardiol 2002; 40: 341-9.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 341-349
    • Bauce, B.1    Rampazzo, A.2    Basso, C.3
  • 73
    • 0034721235 scopus 로고    scopus 로고
    • A molecular link between the sudden infant death syndrome and the long-QT syndrome
    • Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med 2000; 343: 262-7.
    • (2000) N Engl J Med , vol.343 , pp. 262-267
    • Schwartz, P.J.1    Priori, S.G.2    Dumaine, R.3
  • 74
    • 0035922697 scopus 로고    scopus 로고
    • Molecular diagnosis in a child with sudden infant death syndrome
    • Schwartz PJ, Priori SG, Bloise R, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet 2001; 358: 1342-3.
    • (2001) Lancet , vol.358 , pp. 1342-1343
    • Schwartz, P.J.1    Priori, S.G.2    Bloise, R.3
  • 75
    • 0035860984 scopus 로고    scopus 로고
    • Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001; 286: 2264-9.
    • (2001) JAMA , vol.286 , pp. 2264-2269
    • Ackerman, M.J.1    Siu, B.L.2    Sturner, W.Q.3
  • 76
    • 22544474319 scopus 로고    scopus 로고
    • Sudden infant death syndrome: How significant are the cardiac channelopathies?
    • Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 2005; 67: 388-96.
    • (2005) Cardiovasc Res , vol.67 , pp. 388-396
    • Tester, D.J.1    Ackerman, M.J.2
  • 77
    • 33846510967 scopus 로고    scopus 로고
    • Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3
    • Cronk LB, Ye B, Kaku T, et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm 2007; 4: 161-6.
    • (2007) Heart Rhythm , vol.4 , pp. 161-166
    • Cronk, L.B.1    Ye, B.2    Kaku, T.3
  • 78
    • 33846046495 scopus 로고    scopus 로고
    • Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
    • Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007; 115: 361-7.
    • (2007) Circulation , vol.115 , pp. 361-367
    • Arnestad, M.1    Crotti, L.2    Rognum, T.O.3
  • 79
    • 26944485507 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing
    • Tester DJ, Kopplin LJ, Will ML, Ackerman MJ. 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 2005; 2: 1099-105.
    • (2005) Heart Rhythm , vol.2 , pp. 1099-1105
    • Tester, D.J.1    Kopplin, L.J.2    Will, M.L.3    Ackerman, M.J.4
  • 81
    • 34147146134 scopus 로고    scopus 로고
    • A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors
    • Tester DJ, Dura M, Carturan E, et al. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm 2007; 4: 733-9.
    • (2007) Heart Rhythm , vol.4 , pp. 733-739
    • Tester, D.J.1    Dura, M.2    Carturan, E.3
  • 82
    • 0023932094 scopus 로고
    • Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction
    • Shibata DK, Arnheim N, Martin WJ. Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J Exp Med 1988; 167: 225-30.
    • (1988) J Exp Med , vol.167 , pp. 225-230
    • Shibata, D.K.1    Arnheim, N.2    Martin, W.J.3
  • 83
    • 0024116375 scopus 로고
    • Comparison of formalin, buffered formalin, and Bouin's fixation on the detection of human papillomavirus deoxyribonucleic acid from genital lesions
    • Nuovo GJ, Silverstein SJ. Comparison of formalin, buffered formalin, and Bouin's fixation on the detection of human papillomavirus deoxyribonucleic acid from genital lesions. Lab Invest 1988; 59: 720-4.
    • (1988) Lab Invest , vol.59 , pp. 720-724
    • Nuovo, G.J.1    Silverstein, S.J.2
  • 84
    • 0026207445 scopus 로고
    • PCR amplification from paraffin-embedded tissues: Recommendations on fixativesfor long-term storage and prospective studies
    • Greer CE, Lund JK, Manos MM. PCR amplification from paraffin-embedded tissues: recommendations on fixativesfor long-term storage and prospective studies. PCR Methods Appl 1991; 1: 46-50.
    • (1991) PCR Methods Appl , vol.1 , pp. 46-50
    • Greer, C.E.1    Lund, J.K.2    Manos, M.M.3
  • 85
    • 0026076274 scopus 로고
    • RNA extracted from paraffin-embedded human tissues is amenable to analysis by PCR amplification
    • Stanta G, Schneider C. RNA extracted from paraffin-embedded human tissues is amenable to analysis by PCR amplification. Biotechniques 1991; 11: 304-8.
    • (1991) Biotechniques , vol.11 , pp. 304-308
    • Stanta, G.1    Schneider, C.2
  • 86
    • 0036898005 scopus 로고    scopus 로고
    • Effect of fixatives and tissue processing on the content and integrity of nucleic acids
    • Srinivasan M, Sedmak D, Jewell S. Effect of fixatives and tissue processing on the content and integrity of nucleic acids. Am J Pathol 2002; 161: 1961-71.
    • (2002) Am J Pathol , vol.161 , pp. 1961-1971
    • Srinivasan, M.1    Sedmak, D.2    Jewell, S.3
  • 87
    • 48249141024 scopus 로고    scopus 로고
    • Evaluation of differen DNA extraction methods in archival heart tissue for postmortem mutational analysis. (abstr)
    • Carturan E, Tester DJ, Thiene G, Ackerman MJ. Evaluation of differen DNA extraction methods in archival heart tissue for postmortem mutational analysis. (abstr) Lab Invest 2006; 86 (Suppl): 325.
    • (2006) Lab Invest , vol.86 , Issue.SUPPL. , pp. 325
    • Carturan, E.1    Tester, D.J.2    Thiene, G.3    Ackerman, M.J.4
  • 88
    • 48249144377 scopus 로고    scopus 로고
    • on behalf of the Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death
    • in press
    • Basso C, Burke M, Fornes P, et al, on behalf of the Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death. Virchows Archiv 2007, in press.
    • (2007) Virchows Archiv
    • Basso, C.1    Burke, M.2    Fornes, P.3
  • 89
    • 33846094595 scopus 로고    scopus 로고
    • Can a message from the dead save lives?
    • Schwartz PJ, Crotti L. Can a message from the dead save lives? J Am Coll Cardiol 2007; 49: 247-9.
    • (2007) J Am Coll Cardiol , vol.49 , pp. 247-249
    • Schwartz, P.J.1    Crotti, L.2


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