Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing

Mayo Clinic Proceedings

Volumn 87, Issue 6, 2012, Pages 524-539

  Tester, David J ^a   Medeiros Domingo, Argelia ^a   Will, Melissa L ^a   Haglund, Carla M ^a   Ackerman, Michael J ^a,b  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; AUTOPSY; CARDIAC CHANNEL MOLECULAR AUTOPSY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHILD; COHORT ANALYSIS; CONFERENCE PAPER; CONTROLLED STUDY; EXERCISE; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNQ1 GENE; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; RYR2 GENE; SCHOOL CHILD; SCN5A GENE; SEX DIFFERENCE; SLEEP; SUDDEN DEATH;

EID: 84863484022     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mayocp.2012.02.017     Document Type: Conference Paper

References (56)

1. Virmani R, Burke AP, Farb A. Sudden cardiac death. Cardiovasc Pathol. 2001;10(6):275-282.
2. Liberthson RR. Sudden death from cardiac causes in children and young adults. N Engl J Med. 1996;334(16):1039-1044. (Pubitemid 26124453)
3. Chugh SS, Kelly KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation. 2000;102(6):649-654. (Pubitemid 30640665)
4. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes: Clinical, demographic, and pathological profiles [see comment]. JAMA. 1996;276(3):199-204. (Pubitemid 26235063)
5. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res. 2001; 50(2):399-408. (Pubitemid 32382167)
6. Behr E, Wood DA, Wright M, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362(9394):1457-1459. (Pubitemid 37352884)
7. Morentin B, Suarez-Mier MP, Aguilera B. Sudden unexplained death among persons 1-35 years old. Forensic Sci Int. 2003; 135(3):213-217. (Pubitemid 36961463)
8. Puranik R, Chow CK, Duflou JA, Kilborn MJ, McGuire MA. Sudden death in the young. Heart Rhythm. 2005;2(12):1277-1282. (Pubitemid 43055408)
9. Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 2006; 21(3):166-172. (Pubitemid 44315078)
10. Wever EF, Robles de Medina EO. Sudden death in patients without structural heart disease. J Am Coll Cardiol. 2004;43(7): 1137-1144. (Pubitemid 38452586)
11. Ackerman MJ. Cardiac channelopathies: It's in the genes. Nat Med. 2004;10(5):463-464. (Pubitemid 38667902)
12. Ackerman MJ. Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: Genetic testing for cardiac electropathies. Semin Pediat Neurol. 2005; 12(1):52-58. (Pubitemid 40558914)
13. Goldenberg I, Moss AJ, Zareba W. Sudden cardiac death without structural heart disease: Update on the long QT and Brugada syndromes. Curr Cardiol Rep. 2005;7(5):349-356. (Pubitemid 41419350)
14. Priori SG, Napolitano C, Giordano U, Collisani G, Memmi M. Brugada syndrome and sudden cardiac death in children. Lancet. 2000;355(9206):808-809. (Pubitemid 30128825)
15. Ackerman MJ, Tester DJ, Driscoll DJ. Molecular autopsy of sudden unexplained death in the young. Am J Forensic Med Pathol. 2001;22(2):105-111. (Pubitemid 32494104)
16. Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001;286(18):2264-2269. (Pubitemid 33063149)
17. Chugh SS, Senashova O, Watts A, et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol. 2004;43(9):1625-1629. (Pubitemid 38561345)
18. Basso C, Burke M, Fornes P, et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2008; 452(1):11-18.
19. Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm. 2012;9(1):145-150.
20. Ackerman MJ, Priori SG, Willems S, et al. 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. 2011;8(8):1308-1339.
21. Di Paolo M, Luchini D, Bloise R, Priori SG. Postmortem molecular analysis in victims of sudden unexplained death. Am J Forensic Med Pathol. 2004;25(2):182-184. (Pubitemid 38702550)
22. 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 molecularautopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004;79(11):1380-1384. (Pubitemid 39453301)
23. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. [see comment]. J Am Coll Cardiol. 2007;49(2):240-246. (Pubitemid 46054388)
24. Doolan A, Langlois N, Semsarian C. Causes of sudden cardiac death in young Australians. Med J Australia. 2004;180(3):110-112. (Pubitemid 38173103)
25. 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(1):62-67. (Pubitemid 43257435)
26. Nishio H, Iwata M, Suzuki K. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics. Circ J. 2006;70(11):1402-1406. (Pubitemid 44672894)
27. Gladding PA, Evans CA, Crawford J, et al. Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm. 2010;7(4):481-486.
28. Skinner JR, Crawford J, Smith W, et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm. 2011;8(3):412-419.
29. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007;49(2):240-246. (Pubitemid 46054388)
30. Medeiros-Domingo A, Bhuiyan Z, Tester D, et al. Comprehensive open reading frame mutational analysis of the RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome. J Am Coll Cardiol. 2009; 54(22):2065-2074.
31. Tester DJ, Will ML, Haglund CM, Ackerman MJ. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2(5):507-517. (Pubitemid 40521365)
32. Ackerman MJ, Splawski I, Makielski JC, et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004;1(5):600-607. (Pubitemid 39462721)
33. Ackerman MJ, Tester DJ, Jones G, Will MK, Burrow CR, Curran M. Ethnic differences in cardiac potassium channel variants: Implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003;78(12):1479-1487. (Pubitemid 37475631)
34. Kapa S, Tester DJ, Salisbury BA, et al. Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants. Circulation. 2009;120(18):1752-1760.
35. Ran Y, Chen J, Li N, et al. Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. Clin Sci. 2010;119(5):215-223.
36. Koop A, Goldmann P, Chen SRW, Thieleczek R, Varsanyi M. ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor. Biophys J. 2008; 94(12):4668-4677.
37. Nishio Y, Makiyama T, Itoh H, et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol. 2009;54(9):812-819.
38. Splawski I, Timothy KW, Tateyama M, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 2002;297(5585):1333- 1336. (Pubitemid 34913168)
39. Burke A, Creighton W, Mont E, et al. Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation. 2005;112(6):798-802. (Pubitemid 41170064)
40. Sun Z, Milos PM, Thompson JF, et al. Role of KCNH2 polymorphism (R1047L) in dofetilide-induced Torsades de Pointes. J Mol Cell Cardiol. 2004;37(5):1031-1039. (Pubitemid 39446828)
41. Wang DW, Desai RR, Crotti L, et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007; 115(3):368-376. (Pubitemid 46148511)
42. Marangoni S, Di Resta C, Rocchetti M, et al. A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: Standard and dynamic characterization. Cardiovasc Res. 2011;91(4):606-616.
43. Abbott GW, Sesti F, Splawski I, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999;97(2):175-187.
44. Marjamaa A, Salomaa V, Newton-Cheh C, et al. High prevalence of four long QT syndrome founder mutations in the Finnish population. Ann Med. 2009;41(3):234-240.
45. Kubota T, Horie M, Takano M, et al. Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias. J Cardiovasc Electr. 2001;12(11):1223-1229. (Pubitemid 33111888)
46. Vatta M, Dumaine R, Varghese G, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002;11(3):337-345. (Pubitemid 34173363)
47. Wang Q, Chen S, Chen Q, et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. [see comment]. J Med Genet. 2004;41(5):e66.
48. Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschenes I. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm. 2011;8(3):455-462.
49. Ackerman MJ. State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young. PACE. 2009;32(suppl 2):S86-S89.
50. Oliva A, Brugada R, D'Aloja E, et al. State of the art in forensic investigation of sudden cardiac death. Am J Forensic Med Pathol. 2011;32(1):1-16.
51. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106(1):69-74. (Pubitemid 34747444)
52. Ackerman MJ. Genotype-phenotype relationships in congenital long QT syndrome. J Electrocardiol. 2005;38(4, suppl):64-68. (Pubitemid 41436490)
53. Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AAM. The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003;40(2):141-145. (Pubitemid 36232821)
54. Tu E, Bagnall RD, Duflou J, Semsarian C. Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol. 2010;21(2):201-208.
55. Glasscock E, Yoo JW, Chen TT, Klassen TL, Noebels JL. Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci. 2010;30(15):5167-5175.
56. Le Gal F, Korff CM, Monso-Hinard C, et al. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia. 2010;51(9):1915-1918.