메뉴 건너뛰기




Volumn 128, Issue 4, 2014, Pages 599-606

Negative autopsy and sudden cardiac death

Author keywords

Channelopathies; Genetics; Negative autopsy; Sudden cardiac death

Indexed keywords

DNA; MESSENGER RNA;

EID: 84904397582     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-014-0966-4     Document Type: Review
Times cited : (73)

References (50)
  • 2
    • 0025641884 scopus 로고
    • The negative coroner's necropsy: A personal approach and consideration of difficulties
    • 1:STN:280:DyaK3M%2FptlCntA%3D%3D 502968 2266183 10.1136/jcp.43.12.977
    • Lawler W (1990) The negative coroner's necropsy: a personal approach and consideration of difficulties. J Clin Pathol 43(12):977-980
    • (1990) J Clin Pathol , vol.43 , Issue.12 , pp. 977-980
    • Lawler, W.1
  • 3
    • 84904398919 scopus 로고    scopus 로고
    • State of the art in forensic investigation of sudden cardiac death. Am J Forensic Med Pathol Pascali VL
    • Oliva A, Brugada R (2010) D'Aloja E, Boschi I, Partemi S, Brugada J. State of the art in forensic investigation of sudden cardiac death. Am J Forensic Med Pathol, Pascali VL
    • (2010) D'Aloja E, Boschi I, Partemi S, Brugada J
    • Oliva, A.1    Brugada, R.2
  • 4
    • 79960867817 scopus 로고    scopus 로고
    • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • 21787999 10.1016/j.hrthm.2011.05.020
    • Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R et al (2011) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 8(8):1308-1339
    • (2011) Heart Rhythm , vol.8 , Issue.8 , pp. 1308-1339
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3    Berul, C.4    Brugada, R.5    Calkins, H.6    Camm, A.J.7    Ellinor, P.T.8    Gollob, M.9    Hamilton, R.10
  • 5
    • 79960529413 scopus 로고    scopus 로고
    • Cardiac channelopathies and sudden infant death syndrome
    • 1:CAS:528:DC%2BC3MXhtFWktLjI 21778721 10.1159/000329047
    • Tfelt-Hansen J, Winkel BG, Grunnet M, Jespersen T (2011) Cardiac channelopathies and sudden infant death syndrome. Cardiology 119(1):21-33
    • (2011) Cardiology , vol.119 , Issue.1 , pp. 21-33
    • Tfelt-Hansen, J.1    Winkel, B.G.2    Grunnet, M.3    Jespersen, T.4
  • 6
    • 80955124577 scopus 로고    scopus 로고
    • Sudden, unexpected death in epilepsy
    • 1:CAS:528:DC%2BC3MXhsF2ks7jO 22070477 10.1056/NEJMra1010481
    • Devinsky O (2011) Sudden, unexpected death in epilepsy. N Engl J Med 365(19):1801-1811
    • (2011) N Engl J Med , vol.365 , Issue.19 , pp. 1801-1811
    • Devinsky, O.1
  • 7
    • 79956121783 scopus 로고    scopus 로고
    • Genetic analysis of sudden cardiac death victims: A survey of current forensic autopsy practices
    • 20535491 10.1007/s00414-010-0474-0
    • Michaud K, Mangin P, Elger BS (2011) Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices. Int J Legal Med 125(3):359-366
    • (2011) Int J Legal Med , vol.125 , Issue.3 , pp. 359-366
    • Michaud, K.1    Mangin, P.2    Elger, B.S.3
  • 8
    • 80052650024 scopus 로고    scopus 로고
    • Sudden death: Managing the patient who survives
    • 1:CAS:528:DC%2BC3MXhtlKjtb3L 21900587 10.1136/hrt.2009.188375
    • Pachon M, Almendral J (2011) Sudden death: managing the patient who survives. Heart 97(19):1619-1625
    • (2011) Heart , vol.97 , Issue.19 , pp. 1619-1625
    • Pachon, M.1    Almendral, J.2
  • 9
    • 77950301165 scopus 로고    scopus 로고
    • Sudden cardiac death: Epidemiology and risk factors
    • 20142817 10.1038/nrcardio.2010.3
    • Adabag AS, Luepker RV, Roger VL, Gersh BJ (2010) Sudden cardiac death: epidemiology and risk factors. Nat Rev Cardiol 7(4):216-225
    • (2010) Nat Rev Cardiol , vol.7 , Issue.4 , pp. 216-225
    • Adabag, A.S.1    Luepker, R.V.2    Roger, V.L.3    Gersh, B.J.4
  • 12
    • 84862705400 scopus 로고    scopus 로고
    • The molecular autopsy: Should the evaluation continue after the funeral?
    • 3332537 22307399 10.1007/s00246-012-0160-8
    • Tester DJ, Ackerman MJ (2012) The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol 33(3):461-470
    • (2012) Pediatr Cardiol , vol.33 , Issue.3 , pp. 461-470
    • Tester, D.J.1    Ackerman, M.J.2
  • 14
    • 41649090413 scopus 로고    scopus 로고
    • 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
    • DOI 10.1309/VLA7TT9EQ05FFVN4
    • Carturan E, Tester DJ, Brost BC, Basso C, Thiene G, Ackerman MJ (2008) 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 129(3):391-397 (Pubitemid 352029291)
    • (2008) American Journal of Clinical Pathology , vol.129 , Issue.3 , pp. 391-397
    • Carturan, E.1    Tester, D.J.2    Brost, B.C.3    Basso, C.4    Thiene, G.5    Ackerman, M.J.6
  • 16
    • 77950123230 scopus 로고    scopus 로고
    • Sudden death: Ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases
    • 1:STN:280:DC%2BC3czhsFGmsg%3D%3D 19863545 10.1111/j.1399-0004.2009.01293. x
    • Elger BS, Michaud K, Fellmann F, Mangin P (2010) Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases. Clin Genet 77(3):287-292
    • (2010) Clin Genet , vol.77 , Issue.3 , pp. 287-292
    • Elger, B.S.1    Michaud, K.2    Fellmann, F.3    Mangin, P.4
  • 17
    • 77954474471 scopus 로고    scopus 로고
    • The genetic and clinical features of cardiac channelopathies
    • 10.2217/fca.10.27
    • Roberts JD, Gollob MH (2010) The genetic and clinical features of cardiac channelopathies. Futur Cardiol 6(4):491-506
    • (2010) Futur Cardiol , vol.6 , Issue.4 , pp. 491-506
    • Roberts, J.D.1    Gollob, M.H.2
  • 18
    • 84856703950 scopus 로고    scopus 로고
    • Genetics of inherited cardiomyopathy
    • 1:CAS:528:DC%2BC38XitFahtLY%3D 3270042 21810862 10.1093/eurheartj/ehr260
    • Jacoby D, McKenna WJ (2012) Genetics of inherited cardiomyopathy. Eur Heart J 33(3):296-304
    • (2012) Eur Heart J , vol.33 , Issue.3 , pp. 296-304
    • Jacoby, D.1    McKenna, W.J.2
  • 19
    • 84870933622 scopus 로고    scopus 로고
    • Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Translational research
    • Giudicessi JR, Ackerman MJ (2013) Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Translational research. J Lab Clin Med 161(1):1-14
    • (2013) J Lab Clin Med , vol.161 , Issue.1 , pp. 1-14
    • Giudicessi, J.R.1    Ackerman, M.J.2
  • 21
    • 80053576214 scopus 로고    scopus 로고
    • Cardiac ion channel mutations in the sudden infant death syndrome
    • 21215473 10.1016/j.ijcard.2010.12.051
    • Klaver EC, Versluijs GM, Wilders R (2011) Cardiac ion channel mutations in the sudden infant death syndrome. Int J Cardiol 152(2):162-170
    • (2011) Int J Cardiol , vol.152 , Issue.2 , pp. 162-170
    • Klaver, E.C.1    Versluijs, G.M.2    Wilders, R.3
  • 23
    • 0242329842 scopus 로고    scopus 로고
    • Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
    • DOI 10.1016/S0140-6736(03)14692-2
    • 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(9394):1457-1459 (Pubitemid 37352884)
    • (2003) Lancet , vol.362 , Issue.9394 , pp. 1457-1459
    • Behr, E.1    Wood, D.A.2    Wright, M.3    Syrris, P.4    Sheppard, M.N.5    Casey, A.6    Davies, M.J.7    McKenna, W.8
  • 24
    • 34548164155 scopus 로고    scopus 로고
    • Disclosure of genetics research results after the death of the patient participant: A qualitative study of the impact on relatives
    • DOI 10.1007/s10897-007-9088-1
    • Ormondroyd E, Moynihan C, Watson M, Foster C, Davolls S, Ardern-Jones A, Eeles R (2007) Disclosure of genetics research results after the death of the patient participant: a qualitative study of the impact on relatives. J Genet Couns 16(4):527-538 (Pubitemid 47305508)
    • (2007) Journal of Genetic Counseling , vol.16 , Issue.4 , pp. 527-538
    • Ormondroyd, E.1    Moynihan, C.2    Watson, M.3    Foster, C.4    Davolls, S.5    Ardern-Jones, A.6    Eeles, R.7
  • 25
    • 84873522590 scopus 로고    scopus 로고
    • Cardiac channelopathies: Genetic and molecular mechanisms
    • 1:CAS:528:DC%2BC3sXhsFCqtbw%3D 23266818 10.1016/j.gene.2012.12.061
    • Abriel H, Zaklyazminskaya EV (2013) Cardiac channelopathies: genetic and molecular mechanisms. Gene 517(1):1-11
    • (2013) Gene , vol.517 , Issue.1 , pp. 1-11
    • Abriel, H.1    Zaklyazminskaya, E.V.2
  • 26
    • 84860120316 scopus 로고    scopus 로고
    • Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
    • 22529064 10.1161/CIRCULATIONAHA.111.055947
    • Napolitano C, Bloise R, Monteforte N, Priori SG (2012) Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation 125(16):2027-2034
    • (2012) Circulation , vol.125 , Issue.16 , pp. 2027-2034
    • Napolitano, C.1    Bloise, R.2    Monteforte, N.3    Priori, S.G.4
  • 28
    • 0026466921 scopus 로고
    • Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
    • 1:STN:280:DyaK3s%2Fls1SjsQ%3D%3D 1309182 10.1016/0735-1097(92)90253-J
    • Brugada P, Brugada J (1992) 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 20(6):1391-1396
    • (1992) J Am Coll Cardiol , vol.20 , Issue.6 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 29
    • 84863216842 scopus 로고    scopus 로고
    • Brugada syndrome 2012
    • 1:CAS:528:DC%2BC38XhtFOktr7E 22789973 10.1253/circj.CJ-12-0717
    • Berne P, Brugada J (2012) Brugada syndrome 2012. Circ J 76(7):1563-1571
    • (2012) Circ J , vol.76 , Issue.7 , pp. 1563-1571
    • Berne, P.1    Brugada, J.2
  • 32
    • 84879410269 scopus 로고    scopus 로고
    • A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome
    • 1:CAS:528:DC%2BC3sXpvFeisbw%3D 23559163 10.1002/humu.22328
    • Riuro H, Beltran-Alvarez P, Tarradas A, Selga E, Campuzano O, Verges M, Pagans S, Iglesias A, Brugada J, Brugada P et al (2013) A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. Hum Mutat 34(7):961-966
    • (2013) Hum Mutat , vol.34 , Issue.7 , pp. 961-966
    • Riuro, H.1    Beltran-Alvarez, P.2    Tarradas, A.3    Selga, E.4    Campuzano, O.5    Verges, M.6    Pagans, S.7    Iglesias, A.8    Brugada, J.9    Brugada, P.10
  • 33
    • 72449147774 scopus 로고    scopus 로고
    • An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
    • 2822446 20129283 10.1016/j.hrthm.2009.09.069
    • Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C et al (2010) An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 7(1):33-46
    • (2010) Heart Rhythm , vol.7 , Issue.1 , pp. 33-46
    • Kapplinger, J.D.1    Tester, D.J.2    Alders, M.3    Benito, B.4    Berthet, M.5    Brugada, J.6    Brugada, P.7    Fressart, V.8    Guerchicoff, A.9    Harris-Kerr, C.10
  • 34
    • 38049146378 scopus 로고    scopus 로고
    • Clinical practice. Long-QT syndrome
    • 1:CAS:528:DC%2BD1cXltFantg%3D%3D 18184962 10.1056/NEJMcp0706513
    • Roden DM (2008) Clinical practice. Long-QT syndrome. N Engl J Med 358(2):169-176
    • (2008) N Engl J Med , vol.358 , Issue.2 , pp. 169-176
    • Roden, D.M.1
  • 35
    • 84865736140 scopus 로고    scopus 로고
    • Long-QT syndrome: From genetics to management
    • 3461497 22895603 10.1161/CIRCEP.111.962019
    • Schwartz PJ, Crotti L, Insolia R (2012) Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 5(4):868-877
    • (2012) Circ Arrhythm Electrophysiol , vol.5 , Issue.4 , pp. 868-877
    • Schwartz, P.J.1    Crotti, L.2    Insolia, R.3
  • 36
    • 84888099178 scopus 로고    scopus 로고
    • Cardiac ion channelopathies and the sudden infant death syndrome
    • 3529486 23304551 10.5402/2012/846171
    • Wilders R (2012) Cardiac ion channelopathies and the sudden infant death syndrome. ISRN Cardiol 2012:846171
    • (2012) ISRN Cardiol , vol.2012 , pp. 846171
    • Wilders, R.1
  • 37
    • 77957750796 scopus 로고    scopus 로고
    • Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing
    • 2950837 20920651 10.1016/j.amjcard.2010.06.022
    • Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ (2010) Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol 106(8):1124-1128
    • (2010) Am J Cardiol , vol.106 , Issue.8 , pp. 1124-1128
    • Tester, D.J.1    Benton, A.J.2    Train, L.3    Deal, B.4    Baudhuin, L.M.5    Ackerman, M.J.6
  • 40
    • 73949108682 scopus 로고    scopus 로고
    • Short QT syndrome: A review
    • 19829181 10.1097/CRD.0b013e3181c07592
    • Patel U, Pavri BB (2009) Short QT syndrome: a review. Cardiol Rev 17(6):300-303
    • (2009) Cardiol Rev , vol.17 , Issue.6 , pp. 300-303
    • Patel, U.1    Pavri, B.B.2
  • 42
    • 84655160739 scopus 로고    scopus 로고
    • Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
    • 1:CAS:528:DC%2BC3MXlvVOqtbw%3D 3086900 21383000 10.1093/eurheartj/ehr076
    • Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D et al (2011) Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J 32(9):1077-1088
    • (2011) Eur Heart J , vol.32 , Issue.9 , pp. 1077-1088
    • Templin, C.1    Ghadri, J.R.2    Rougier, J.S.3    Baumer, A.4    Kaplan, V.5    Albesa, M.6    Sticht, H.7    Rauch, A.8    Puleo, C.9    Hu, D.10
  • 43
    • 77952099469 scopus 로고    scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia
    • 20143088 10.1007/s00431-010-1154-2
    • Ylanen K, Poutanen T, Hiippala A, Swan H, Korppi M (2010) Catecholaminergic polymorphic ventricular tachycardia. Eur J Pediatr 169(5):535-542
    • (2010) Eur J Pediatr , vol.169 , Issue.5 , pp. 535-542
    • Ylanen, K.1    Poutanen, T.2    Hiippala, A.3    Swan, H.4    Korppi, M.5
  • 44
    • 0035849570 scopus 로고    scopus 로고
    • Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21
    • Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E (2001) Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 103(23):2822-2827 (Pubitemid 32550071)
    • (2001) Circulation , vol.103 , Issue.23 , pp. 2822-2827
    • Lahat, H.1    Eldar, M.2    Levy-Nissenbaum, E.3    Bahan, T.4    Friedman, E.5    Khoury, A.6    Lorber, A.7    Kastner, D.L.8    Goldman, B.9    Pras, E.10
  • 45
    • 79952796280 scopus 로고    scopus 로고
    • Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry
    • 1:CAS:528:DC%2BC3MXjtVSrtLg%3D 3041844 21148745 10.1161/CIRCGENETICS.110. 957696
    • Barajas-Martinez H, Hu D, Ontiveros G, Caceres G, Desai M, Burashnikov E, Scaglione J, Antzelevitch C (2011) Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. Circ Cardiovasc Genet 4(1):51-57
    • (2011) Circ Cardiovasc Genet , vol.4 , Issue.1 , pp. 51-57
    • Barajas-Martinez, H.1    Hu, D.2    Ontiveros, G.3    Caceres, G.4    Desai, M.5    Burashnikov, E.6    Scaglione, J.7    Antzelevitch, C.8
  • 48
    • 80052705562 scopus 로고    scopus 로고
    • Next generation sequencing - Implications for clinical practice
    • 1:CAS:528:DC%2BC3MXhtFKisbfN 21705347 10.1093/bmb/ldr029
    • Raffan E, Semple RK (2011) Next generation sequencing - implications for clinical practice. Br Med Bull 99:53-71
    • (2011) Br Med Bull , vol.99 , pp. 53-71
    • Raffan, E.1    Semple, R.K.2
  • 49
    • 84863484022 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
    • 1:CAS:528:DC%2BC38XhtFCjsL%2FN 10.1016/j.mayocp.2012.02.017
    • Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ (2012) Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc Mayo Clin 87(6):524-539
    • (2012) Mayo Clin Proc Mayo Clin , vol.87 , Issue.6 , pp. 524-539
    • Tester, D.J.1    Medeiros-Domingo, A.2    Will, M.L.3    Haglund, C.M.4    Ackerman, M.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.