Sudden cardiac death syndrome: Age, gender, ethnicity, and genetics

Acta Cardiologica Sinica

Volumn 24, Issue 2, 2008, Pages 65-74

  Sung, Ruey J ^a,g   Kuo, Chi Tai ^b   Wu, Shan Nan ^c   Lai, Wen Ter ^d   Luqman, Nazar ^e   Chan, Ngai Yin ^f  

^a NATIONAL CENTRAL UNIVERSITY   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

^c NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^e PRINCESS MARGARET HOSPITAL   (Hong Kong)

^f RIPAS HOSPITAL   (Brunei Darussalam)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Atheroslerotic coronary heart disease; Hypertrophic cardiomyopathy; Long QT syndrome; Molecular genetics; Sudden cardiac death

Indexed keywords

ABNORMAL LABORATORY RESULT; AGE DISTRIBUTION; ATHEROSCLEROTIC CARDIOVASCULAR DISEASE; BRUGADA SYNDROME; CATHETER ABLATION; CONGENITAL HEART DISEASE; CORONARY ARTERY DISEASE; DEFIBRILLATION; DIAGNOSTIC TEST; ELECTROCARDIOGRAM; ETHNIC DIFFERENCE; FAMILY HISTORY; GENE MUTATION; GENETIC PREDISPOSITION; HEART LEFT VENTRICLE FUNCTION; HEART MUSCLE REVASCULARIZATION; HEART RIGHT VENTRICLE DYSPLASIA; HIGH RISK POPULATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; ISCHEMIC HEART DISEASE; LIFESTYLE MODIFICATION; LONG QT SYNDROME; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PATIENT COUNSELING; PHYSICAL ACTIVITY; PREVENTIVE MEDICINE; PROGNOSIS; REVIEW; RISK ASSESSMENT; SEX DIFFERENCE; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; SYMPTOMATOLOGY; SYNCOPE; VALVULAR HEART DISEASE;

EID: 51349151283     PISSN: 10116842     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (88)

1. de Vreede-Swagemakers JJ, Gorgels AP, Dubois-Arbouw WI, et al. Out-of-hospital cardiac arrest in the 1990's: a population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol 1997;30:1500-5.
2. Zheng ZJ, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation 2001; 104:2158-63.
3. Zheng ZJ, Croft JB, Giles WH, Mensah A. Out-of-hospital cardiac deaths in adolescents and young adults in the United States, 1989 to 1998. Am J Prev Med 2005;29(5 suppl 1):36-41.
4. Neuspiel DR, Kuller LH. Sudden and unexpected natural death in childhood and adolescence. JAMA 1985;254:1321-5.
5. Anderson RE, Hill RB, Broudy DW, et al. A population-based autopsy study of sudden, unexpected deaths from natural causes among persons 5 to 39 years old during a 12-year period. Hum Pathol 1994;25:1332-40.
6. Shen WK, Edwards WD, Hammill SC, et al. Sudden unexpected nontraumatic death in 54 young adults: a 30-year population-based study. Am J Cardiol 1995;76:148-52.
7. Morentin B, Suarez-Mier MP, Aguilera B. Sudden unexplained death among persons 1-35 years old. Forensic Sci Int 2003; 135:213-7.
8. Fleming P, Blair P, Bacon C, Berry J. Sudden unexpected deaths in infancy. The CESDI SUDI Study. London: the Stationary Office, 2000.
9. Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical and genetic approach. Int Med J 2007;37:32-7.
10. Milewicz DM, Seidman CE. Genetics of cardiovascular disease. Circulation 2000;102:IV-103-111.
11. Lehnart SE, Ackerman MJ, Benson W, 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. Circulation 2007;116:2325-45.
12. Maron BJ. Hypertrophic cardiomyopathy: an important global disease. Am J Med 2004;116:63-5.
13. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001;33:655-70.
14. Nava A, Thiene G, Canciani B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 1988;12:1222-8.
15. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy. J Am Coll Cardiol 2007;50:1813-21.
16. Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639-46.
17. Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Eng J Med 2003;348:1647-55.
18. Keating M, Atkinson D, Dunn C, et al. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991;252:704-6.
19. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392: 293-6.
20. Priori SG, Napolitano C, Tiso N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103:196-2000.
21. Brugada R, Hung K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004;109:30-5.
22. Tester DJ, Ackerman MJ. The role of antopsy in unexpected sudden cardiac death. Curr Opin Cardiol 2006;21:166-72.
23. Tan HL, Hofman N, van Langon IM, et al. Sudden unexpected death. Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005; 112:207-13.
24. Roger VL, Farkouh ME, Weston SA, et al. Sex differences in evaluation and outcome of unstable angina. JAMA 2000;283: 646-52.
25. Burke AP, Farb A, Malcom GT, et al. Effect of risk factors on the mechanism of acute thrombosis and sudden coronary death in women. Circulation 1998;97:2110-6.
26. Kannel WB, Wilson PW, D'Agostino R.B, Cobb J. Sudden coronary death in women. Am Heart J 1998;136:205-12.
27. Albert CM, McGovern BA, Newell JB, Ruskin JN. Sex differences in cardiac arrest survivors. Circulation 1996;93:1170-6.
28. Albert CM, Chae CU, Grodstein F, et al. Prospective study of sudden cardiac death among women in the United States. Circulation 2003;107:2096-101.
29. Albert CM, Nam EG, Rimm EB, et al. Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation 2008;117:16-23.
30. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995b;80:805-11.
31. Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007;115:361-367.
32. Goldenberg I, Moss AJ, Peterson DR, et al. Risk factors for aborted cardiac arrest and sudden cardiac death in children with congenital long-QT syndrome. Circulation 2008; 117:2148-91.
33. 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.
34. 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.
35. Sauer AJ, Moss AJ, McNitt S, et al. Long QT syndrome in adults. J Am Coll Cardiol 2007;49:329-37.
36. Goldenberg I, Moss AJ, Bradley J, et al. Long-QT syndrome after age 40. Circulation 2008;117:2192-201.
37. Drici MD, Clement N. Is gender a risk factor for adverse drug reactions? The example of drug-induced long QT syndrome. Drug Saf 2001;24:575-85.
38. Maron B J, Shirani J, Poliac LC, et al. Sudden death in young competitive athletes: clinical demographic and pathological profiles. JAMA 1996;276:199-204.
39. Splawski I, Timothy KW, Tateyama M, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002;297:1333-6.
40. Ackerman MJ, Tester DJ, Jones G, et al. 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;78:1479-87.
41. 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;1:600-7.
42. Hawaii Department of Health. Hawaii Health Survey 2001. Honolulu: 2002.
43. Grandinetti A, Seifried S, Mor J, et al. Prevalence and risks for prolonged QTc in a multiethnic cohort in rural Hawaii. Clin Biochem 2005;38:116-22.
44. Grandinetti A, Seifried S, Chow DC, et al. Association between angiotensin-converting enzyme gene polymorphisims and QT duration in a multiethnic population in Hawaii. Auto Neuros Bas Clin 2006;130:51-6.
45. Richard P, Charron P, Carrier L, et al. For the Eurogene Heart Failure Project. Hypertrophic Cardiomyopathy. Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-32.
46. Moolman JC, Corfield VA, Posen B, et al. Sudden death due to troponin T mutations. J Am Coll Cardiol 1997;29:549-55.
47. Kubo T, Gimeno JR, Bahl A, et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 2007;49:2419-26.
48. Zou Y, Song L, Wang Z, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 2004;116:14-8.
49. Ho HH, Lee KL, Lau CP, Tse HF. Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy. Am J Med 2004; 116:19-23.
50. Kitaoka H, Doi Y, Casey SA, et al. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol 2003;92:1183-6.
51. Maron B J, Schiffers A, Klues HG. Comparison of phenotypic expression of hypertrophic cardiomyopathy in patients from the United States and Germany. Am J Cardiol 1999;83:626-7.
52. Song L, Zou Y, Wang J, et al. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta 2005; 351:209-16.
53. 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;36:1162-4.
54. Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomypathy type 2 (ARVD). Hum Mol Genet 2001;10:189-94.
55. Naccarella F, Naccarelli G, Fattori R, et al. Arrhythmogenic right ventricular dysplasia: cardiomyopathy current opinions on diagnostic and therapeutic aspects. Curr Opin Cardiol 2001;16:8-16.
56. 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 on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 2000; 101:El01-6.
57. Fung WH, Sanderson JE. Clinical profile of arrhythmogenic right ventricular cardiomyopathy in Chinese patients, Int J Cardiol 2001;81:9-18.
58. Wang Q, Shen J, Li Z, et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995a;4:1603-7.
59. Moss AJ, Kass RS. Long QT syndrome: from channels to cardiac arrhythmias. J Clin Invest 2005;115:2018-24.
60. 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.
61. 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.
62. Hiraoka M. Inherited arrhythmic disorders in Japan. J Cardiovasc Electrophysiol 2003;14:431-4.
63. Donger C, Denjoy I, Berthet M, et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997;96:2778-81.
64. Piippo K, Swan H, Pasternack M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol 2001;37:562-8.
65. 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.
66. 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.
67. Zhang Y, Zhou N, Jiang W, et al. A missense mutation (G604S) in the S5/ pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death. Eur J Pediatr 2007;166:927-33.
68. Crotti L, Spazzolini C, Schwartz PJ, et al. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation 2007;116:2366-75.
69. Nademanee K, Veerakul G, Nimmannit S, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997;96:2595-600.
70. Baron RC, Thacker SB, Gorelkin L, et al. Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon. JAMA 1983;250:2947-51.
71. 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.
72. 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.
73. London B, Michalec M, Mehdi H, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD 1-L) decreases cardiac Na+ current and causes inherited arrhythrnias. Circulation 2007;116:2260-8.
74. Van Norstrand DW, Valdivia CR, Tester DJ, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 2007;116:2253-9.
75. Chen SM, Kuo CT, Lin KH, Chiang FT. Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient. J Formos Med Assoc 2000 Nov;99(11):860-2.
76. 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.
77. Matsuo K, Akahoshi M, Nakashima E, et al. The prevalence, incidence and prognostic value of the Brugada-type electrocardiogram: a population-based study of four decades. J Am Coll Cardiol 2001;38:765-70.
78. Bezzina CR, Shimizu W, Yang P, et al. Common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction. Circulation 2006;113:338-44.
79. Opdal SH, Rognum TO. The sudden infant death syndrome gene: does it exist? Pediatrics 2004;114:e506-12.
80. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Gener A 2007;143:771-88.
81. Hoffman H J, Damus K, Hillman L, Krongrad E. Risk factors for SIDS. Results of the National Institute of Child Health and Human Development SIDS Cooperative Epidemiological Study. Ann N Y Acad Sci 1988;533:13-30.
82. Malloy MH, Eschbach K. Association of poverty with sudden infant death syndrome in metropolitan counties of the United States in the years 1990 and 2000. South Med J 2007;100:1107-13.
83. Wang DW, Desai RR, Crotti L, et al. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation 2007; 115:368-76.
84. Plant LD, Bowers PN, Liu Q, et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S 1103Y. J Clin Invest 2006;116:430-5.
85. 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.
86. Chou YS, Tsai CH, Wu TC. Out of Hospital Sudden Death - An Observation at The Emergency Room. Acta Cardiol Sin 1993; 9:141-8.
87. Rajamani S, Anderson CL, Anson BD, January CT. Pharmacological rescue of human K channel long QT2 mutations. Circulation 2002;105:2830-5.
88. Gepstein L, Feld Y, Yankelson L. Somatic gene and cell therapy strategy for the treatment of cardiac arrhythmias. Am J Physiol 2004;286:H815-22.