Genetics of sudden cardiac death

Current Cardiology Reports

Volumn 13, Issue 5, 2011, Pages 364-376

  Barsheshet, Alon ^a   Brenyo, Andrew ^a   Moss, Arthur J ^a   Goldenberg, Ilan ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Aborted cardiac arrest; Arrhythmia; ARVC D; Brugada syndrome; Catecholaminergic polymorphic ventricular tachycardia; CPVT; Diagnosis; Dilated cardiomyopathy; Genes; Genetic testing; Genetics; Hypertrophic cardiomyopathy; Long QT syndrome; LQTS; Prognosis; Risk assessment; SCD; Short QT syndrome; Sudden cardiac death

Indexed keywords

ARTICLE; BETA MYOSIN HEAVY CHAIN GENE; BRUGADA SYNDROME; CALSEQUESTRIN GENE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONGESTIVE CARDIOMYOPATHY; DESMOCOLLIN 2 GENE; DESMOGLIEN 2 GENE; DESMOPLAKIN GENE; ELECTROCARDIOGRAM; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; JUNCTIONAL PLAKOGLOBIN GENE; KCNE1 GENE; KCNE2 GENE; KCNJ2 GENE; LAMIN A C GENE; LONG QT SYNDROME; LYSOSOME ASSOCIATED MEMBRANE PROTEIN GENE; MUTATOR GENE; MYOSIN BINDING PROTEIN C GENE; PLAKOPHILIN 2 GENE; POTASSIUM REPOLARIZATION CHANNEL GENE; RISK ASSESSMENT; RYANODINE RECEPTOR GENE; SHORT QT SYNDROME; SODIUM CHANNEL GENE; SUDDEN DEATH; TROPONIN T GENE;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BRUGADA SYNDROME; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART DISEASES; HUMANS; KAPLAN-MEIER ESTIMATE; LONG QT SYNDROME; MALE; MUTATION; PROGNOSIS; RISK FACTORS; TACHYCARDIA, VENTRICULAR;

EID: 81255158694     PISSN: 15233782     EISSN: 15343170     Source Type: Journal    
DOI: 10.1007/s11886-011-0209-y     Document Type: Article

References (93)

1. Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2009;15:83-97.
2. Roden DM, American Heart Association. Cardiovascular genetics and genomics. Chichester: Wiley-Blackwell; 2009.
3. Ho CY Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy. Circulation. 2010;122:2430-40.
4. Wang L, Seidman JG, Seidman CE. Narrative review: Harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med. 2010;152:513-20.
5. Olivotto I, Girolami F, Ackerman MJ, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008;83:630-8. (Pubitemid 351810562)
6. Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-51. (Pubitemid 34141700)
7. Van Driest SL, Vasile VC, Ommen SR, et al. Myosin binding protein c mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903-10. (Pubitemid 39424094)
8. Ingles J, Doolan A, Chiu C, et al. Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling. J Med Genet. 2005;42:e59.
9. Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals. Genet Med. 2010;12:655-67.
10. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Eur Heart J. 2010;31:806-14.
11. Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death-executive summary: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death) developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Eur Heart J. 2006;27:2099-140.
12. Awad MM, Calkins H, Judge DP Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008;5:258-67. (Pubitemid 351593909)
13. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:11624.
14. Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71:1200-6. (Pubitemid 35305239)
15. Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (naxos disease) maps to 17q21. Circulation. 1998;97:2049-58. (Pubitemid 28243668)
16. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998;39:418-21. (Pubitemid 28417376)
17. Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113:1641-9.
18. van Tintelen JP, Entius MM, Bhuiyan ZA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy Circulation. 2006;113:1650-8.
19. Dalal D, James C, Devanagondi R, et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy J Am Coll Cardiol. 2006;48:1416-24. (Pubitemid 44436806)
20. Bauce B, Nava A, Beffagna G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Hear Rhythm. 2010;7:22-9.
21. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2005;16:927-35. (Pubitemid 41623790)
22. Kaufman ES, McNitt S, Moss AJ, et al. Risk of death in the long QTsyndrome when a sibling has died. Hear Rhythm. 2008;5:831-6.
23. Goldenberg I, Moss AJ. Long QT syndrome. J Am Coll Cardiol. 2008;51:2291-300. (Pubitemid 351783362)
24. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med. 2003;348:1866-74. (Pubitemid 36532312)
25. 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.
26. 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.
27. Goldenberg I, Moss AJ, Zareba W, et al. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol. 2006;17:1161-8. (Pubitemid 44583855)
28. 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. (Pubitemid 32520856)
29. Splawski I, Timothy KW, Sharpe LM, et al. Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119:19-31. (Pubitemid 39349317)
30. 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. (Pubitemid 32050441)
31. Moss AJ, Robinson JL, Gessman L, et al. Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol. 1999;84:876-9. (Pubitemid 29475069)
32. Ackerman MJ, Tester DJ, Porter CJ. Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin Proc. 1999;74:1088-94. (Pubitemid 30243241)
33. Seth R, Moss AJ, McNitt S, et al. Long QT syndrome and pregnancy. J Am Coll Cardiol. 2007;49:1092-8. (Pubitemid 46349501)
34. Buber Y, Jehu M, Moss AJ, et al. Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2. Circulation. 2011;123:2784-91.
35. Moss AJ, Shimizu W, Wilde AA, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007;115:2481-9. (Pubitemid 46763221)
36. Barsheshet A, Goldenberg I, O-Uchi J, et al. Mutations in cytoplasmic loops are associated with increased risk for cardiac events in type-1 long QT syndrome [abstract]. Circulation. 2010;122:A13466.
37. Shimizu W, Moss AJ, Wilde AA, et al. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009;54:2052-62.
38. Liu JF, Moss AJ, Jons C, et al. Mutation-specific risk in two genetic forms of type 3 long QT syndrome. Am J Cardiol. 2010;105:210-3.
39. Itoh H, Shimizu W, Hayashi K, et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study. Hear Rhythm. 2010;7:1411-8.
40. Goldenberg I, Horr S, Moss AJ, et al. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol. 2010;57:51-9.
41. Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: a familial cause of sudden death. Circulation. 2003;108:965-70. (Pubitemid 37048226)
42. 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. (Pubitemid 38679556)
43. 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. (Pubitemid 40559520)
44. Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011;57:802-12.
45. Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: pharmacological treatment. J Am Coll Cardiol. 2004;43:1494-9. (Pubitemid 38496360)
46. 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.
47. Hermida JS, Lemoine JL, Aoun FB, et al. Prevalence of the Brugada syndrome in an apparently healthy population. Am J Cardiol. 2000;86:91-4. (Pubitemid 30365152)
48. Miyasaka Y, Tsuji H, Yamada K, et al. Prevalence and mortality of the brugada-type electrocardiogram in one city in japan. J Am Coll Cardiol. 2001;38:771-4. (Pubitemid 32835750)
49. Antzelevitch C, Brugada P, Borggrefe M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation. 2005;111:659-70.
50. Benito B, Sarkozy A, Mont L, et al. Gender differences in clinical manifestations of Brugada syndrome. J Am Coll Cardiol. 2008;52:1567-73.
51. Benito B, Brugada R, Brugada J, et al. Brugada syndrome. Prog Cardiovasc Dis. 2008;51:1-22. (Pubitemid 351965498)
52. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392:293-6. (Pubitemid 28155103)
53. Rook MB. Bezzina Alshinawi C, Groenewegen WA, et al.: Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res. 1999;44:507-17. (Pubitemid 30012053)
54. Vatta M, Dumaine R, Antzelevitch C, et al. Novel mutations in domain I of SCN5A cause Brugada syndrome. Mol Genet Metab. 2002;75:317-24. (Pubitemid 34971581)
55. 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;11:337-45. (Pubitemid 34173363)
56. Cordeiro JM, Barajas-Martinez H, Hong K, et al. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006;114:2026-33. (Pubitemid 44706878)
57. Casini S, Tan HL, Bhuiyan ZA, et al. Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. Cardiovasc Res. 2007;76:418-29. (Pubitemid 350007464)
58. Antzelevitch C, Pollevick GD, Cordeiro JM, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115:442-9. (Pubitemid 46184195)
59. Delpon E, Cordeiro JM, Nunez L, et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol. 2008;1:209-18.
60. London B, Michalec M, Mehdi H, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+current and causes inherited arrhythmias. Circulation. 2007;116:2260-8. (Pubitemid 350100331)
61. Di Diego JM, Cordeiro JM, Goodrow RJ, et al. Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males. Circulation. 2002;106:2004-11. (Pubitemid 35176309)
62. Smits JP, Eckardt L, Probst V, et al. Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002;40:350-6. (Pubitemid 34756299)
63. Meregalli PG, Tan HL, Probst V, et al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Hear Rhythm. 2009;6:341-8.
64. Leenhardt A, Lucet V, Denjoy I, et al. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995;91:1512-9.
65. Swan H, Piippo K, Viitasalo M, et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999;34:2035-42. (Pubitemid 30002662)
66. 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. (Pubitemid 32095402)
67. Laitinen PJ, Brown KM, Piippo K, et al. Mutations of the cardiac ryanodine receptor (RYR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001;103:485-90. (Pubitemid 32116230)
68. Lahat H, Eldar M, Levy-Nissenbaum E, et al. Autosomal recessive catecholamine-or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation. 2001;103:2822-7. (Pubitemid 32550071)
69. di Barletta MR, Viatchenko-Karpinski S, Nori A, et al. Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2006;114:1012-9. (Pubitemid 44358877)
70. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69-74. (Pubitemid 34747444)
71. Postma AV, Denjoy I, Kamblock J, et al. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, brady-cardia, and follow up of the patients. J Med Genet. 2005;42:863-70. (Pubitemid 41598196)
72. Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. N Engl J Med. 1994;331:1564-75. (Pubitemid 24366905)
73. Goldberger JJ, Cain ME, Hohnloser SH, et al. American Heart Association/American College of Cardiology Foundation/Heart Rhythm Society scientific statement on noninvasive risk stratification techniques for identifying patients at risk for sudden cardiac death: a scientific statement from the American Heart Association Council on Clinical Cardiology Committee on Electrocardiogra-phy and Arrhythmias and Council on Epidemiology and Prevention. Hear Rhythm. 2008;5:e1-21.
74. Maron BJ. Hypertrophic cardiomyopathy: A systematic review. JAMA. 2002;287:1308-20. (Pubitemid 34250486)
75. Maron BJ, Spirito P, Shen WK, et al. Implantable cardioverter- defibrillators and prevention of sudden cardiac death in hypertro-phic cardiomyopathy. JAMA. 2007;298:405-12. (Pubitemid 47124061)
76. Spirito P, Autore C, Rapezzi C, et al. Syncope and risk of sudden death in hypertrophic cardiomyopathy. Circulation. 2009;119:1703-10.
77. Corrado D, Leoni L, Link MS, et al. Implantable cardioverter- defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2003;108:3084-91. (Pubitemid 38031796)
78. Turrini P, Corrado D, Basso C, et al. Dispersion of ventricular depolarization-repolarization: A noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation. 2001;103:3075-80. (Pubitemid 32587854)
79. Goldenberg I, Moss AJ, Peterson DR, et al. Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation. 2008;117:2184-91.
80. Locati EH, Zareba W, Moss AJ, et al. Age-and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: Findings from the International LQTS Registry. Circulation. 1998;97:2237-44. (Pubitemid 28265385)
81. Zareba W, Moss AJ, Sheu G, et al. Location of mutation in the kcnq1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003;14:1149-53. (Pubitemid 37452880)
82. Sauer AJ, Moss AJ, McNitt S, et al. Long QT syndrome in adults. J Am Coll Cardiol. 2007;49:329-37. (Pubitemid 46097383)
83. Hobbs JB, Peterson DR, Moss AJ, et al. Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA. 2006;296:1249-54. (Pubitemid 44394896)
84. Moss AJ, Schwartz PJ, Crampton RS, et al. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation. 1991;84:1136-44.
85. Goldenberg I, Bradley J, Moss A, et al.: Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: Implications for patient management. J Cardiovasc Electrophysiol 2010
86. Zareba W, Moss AJ, Schwartz PJ, et al. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med. 1998;339:960-5. (Pubitemid 28455098)
87. Goldenberg I, Zareba W, Moss AJ. Long QTsyndrome. Curr Probl Cardiol. 2008;33:629-94.
88. Shimizu W, Horie M, Ohno S, et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004;44:117-25. (Pubitemid 38968469)
89. Westenskow P, Splawski I, Timothy KW, et al. Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004;109:1834-41. (Pubitemid 38509116)
90. Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002;105:1342-7. (Pubitemid 34260426)
91. Brugada J, Brugada R, Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest. Circulation. 2003;108:3092-6. (Pubitemid 38031797)
92. Gehi AK, Duong TD, Metz LD, et al. Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J Cardiovasc Electrophysiol. 2006;17:577-83.
93. Delise P, Allocca G, Marras E, et al. Risk stratification in individuals with the Brugada type 1 ECG pattern without previous cardiac arrest: usefulness of a combined clinical and electrophysio-logic approach. Eur Heart J. 2011;32:169-76.