A comparison of genetic findings in sudden cardiac death victims and cardiac patients: The importance of phenotypic classification

Europace

Volumn 17, Issue 3, 2015, Pages 350-357

  Hertz, Christin L ^a   Ferrero Miliani, Laura ^a   Frank Hansen, Rune ^a   Morling, Niels ^a   Bundgaard, Henning ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

Author keywords

Genetics; Mutation; Patients; Sudden cardiac death

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN VIIA; POTASSIUM CHANNEL KCNQ1; POTASSIUM VOLTAGE GATED CHANNEL SUBFAMILY H MEMBER 2; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

AGE DISTRIBUTION; AUTOPSY; BRUGADA SYNDROME; CARDIAC CHANNELOPATHY; CARDIAC PATIENT; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CAUSE OF DEATH; CELL ADHESION; CONGESTIVE CARDIOMYOPATHY; DIFFERENTIAL DIAGNOSIS; ECG ABNORMALITY; FAINTNESS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEART MUSCLE CONTRACTILITY; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; MUTATION RATE; NEXT GENERATION SEQUENCING; PHENOTYPE; PHENOTYPIC VARIATION; PHYSICAL STRESS; PRIORITY JOURNAL; QT PROLONGATION; REVIEW; SARCOMERE; ST SEGMENT; SUDDEN CARDIAC DEATH; CARDIOMYOPATHY; CLASSIFICATION; COMPARATIVE STUDY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETICS; HEART ARREST; HEART ARRHYTHMIA; MUTATION;

ARRHYTHMIAS, CARDIAC; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BRUGADA SYNDROME; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DEATH, SUDDEN, CARDIAC; HEART ARREST; HUMANS; LONG QT SYNDROME; MUTATION; PHENOTYPE; TACHYCARDIA, VENTRICULAR;

EID: 84924425219     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/euu210     Document Type: Review

References (112)

1. World Health Organization. 1992. International Classification of Diseases, 10th Revision (ICD-10). http://www.who.int/classifications/icd/en/.
2. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace 2013;15:1389-406.
3. Chugh SS, Jui J, Gunson K, Stecker EC, John BT, Thompson B et al. Current burden of sudden cardiac death: Multiple source surveillance versus retrospective death certificate-based review in a large U.S. community. J Am Coll Cardiol 2004;44: 1268-75.
4. de Vreede-Swagemakers JJM, Gorgels APM, Dubois-Arbouw WI, van Ree JW, Daemen MJAP, Houben LGE et al. Out-of-Hospital Cardiac Arrest in the 1990s: a population-based study in the Maastricht Area on incidence, characteristics and survival. J Am Coll Cardiol 1997;30:1500-5.
5. William CR. Sudden cardiac death: A diversity of causes with focus on atherosclerotic coronary artery disease. Am J Cardiol 1990;65:13-9.
6. Zheng Z-J, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation 2001;104:2158-63.
7. Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL et al. Nationwide study of sudden cardiac death in persons aged 1-35 years. Eur Heart J 2011;32:983-90.
8. Vaartjes I, Hendrix A, Hertogh EM, Grobbee DE, Doevendans PA, Mosterd A et al. Sudden death in persons younger than 40 years of age: incidence and causes. J Cardiovasc Risk 2009;16:592-6.
9. Puranik R, Chow CK, Duflou JA, Kilborn MJ, McGuire MA. Sudden death in the young. Heart Rhythm 2005;2:1277-82.
10. Papadakis M, Sharma S, Cox S, Sheppard MN, Panoulas VF, Behr ER. The magnitude of sudden cardiac death in the young: a death certificate-based review in England andWales. Europace 2009;11:1353-8.
11. Wong LCH, Behr ER. Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions. Europace 2014;16:1706-13.
12. Ferrero-Miliani L, Holst AG, Pehrson S, Morling N, Bundgaard H. Strategy for clinical evaluation and screening of sudden cardiac death relatives. Fundam Clin Pharmacol 2010;24:619-35.
13. Risgaard B, Winkel BG, Jabbari R, Behr ER, Ingemann-Hansen O, Thomsen JL et al. Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in denmark. Circ Arrhythm Electrophysiol 2014;7:205-11.
14. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001;50:399-408.
15. Chugh SS, Kelly KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation 2000;102:649-54.
16. Eckart RE, Shry EA, Burke AP, McNear JA, Appel DA, Castillo-Rojas LM et al. Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. J Am Coll Cardiol 2011;58:1254-61.
17. de Noronha SV, Behr ER, Papadakis M, Ohta-Ogo K, BanyaW, Wells J et al. The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace 2014;16:899-907.
18. Hocini M, Pison L, Proclemer A, Larsen TB, Madrid A, Blomstrom-Lundqvist C; Scientific Initiative Committee, European Heart Rhythm Association. Diagnosis and management of patients with inherited arrhythmia syndromes in Europe: results of the European Heart Rhythm Association Survey. Europace 2014;16: 600-3.
19. Proclemer A, Lewalter T, Bongiorni MG, Svendsen JH, Pison L, Lundqvist CB; Scientific Initiative Committee, European Heart Rhythm Association. Screening and risk evaluation for sudden cardiac death in ischaemic and non-ischaemic cardiomyopathy: results of the European Heart Rhythm Association survey. Europace 2013;15:1059-62.
20. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270-6.
21. Richardson P, McKennaW, Bristow M. Report of the 1995World Health Organization/ International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996;93:841-2.
22. Maron BJ. Hypertrophic cardiomyopathy. JAMA 2002;287:1308-20.
23. Fineschi V, Baroldi G, Silver MD. Pathology of the Heart and Sudden Death in Forensic Medicine. 1st ed. Boca Raton, FL, USA: Taylor and Francis Group, LLC; 2006. 519 p.
24. Tester DJ, Ackerman MJ. Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Ann Rev Med 2009;60:69-84.
25. Rodriguez-Calvo MS, Brion Ma, Allegue C, Concheiro L, Carracedo A. Molecular genetics of sudden cardiac death. Forensic Sci Int 2008;182:1-12.
26. Allegue C, Gil R, Blanco-Verea A, Santori M, Rodriguez-Calvo M, Concheiro L et al. Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Int J Legal Med 2011;125:565-72.
27. Skinner JR, Crawford J, SmithW, Aitken A, HeavenD, Evans C-A et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 2011;8:412-9.
28. Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MSet al. The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. J Cardiovasc Electrophysiol 2012; 23:1092-8.
29. Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsynegative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 2012;87:524-39.
30. 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;2:507-17.
31. Eddy C-A, MacCormick JM, Chung S-K, Crawford JR, Love DR, Rees MI et al. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm 2008;5:1275-81.
32. Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ. Prevalence and spectrum of large deletions or duplications in the major long QT syndromesusceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol 2010;106:1124-8.
33. Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, AldersMet al. Genetic testing for long-QT syndrome distinguishing pathogenic mutations from benign variants. Circulation 2009;120:1752-60.
34. Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILIONw long QT syndrome genetic test. Heart Rhythm 2009;6:1297-303.
35. Berge KE, Haugaa KH, Fruh A, Anfinsen OG, Gjesdal K, Siem G et al. Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Investig 2008;68:362-8.
36. Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL et al. Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
37. Stattin E-L, Bostrom IM, Winbo A, Cederquist K, Jonasson J, Jonsson B-A et al. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for long QT syndrome genetic testing. BMC Cardiovasc Disord 2012;12.
38. Chugh SS, Senashova O,Watts A, Tran PT, Zhou Z, GongQet al. Postmortemmolecular screening in unexplained sudden death. J Am Coll Cardiol 2004;43:1625-9.
39. Liang P, LiuW, Li C, TaoW, Li L, Hu D. Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese. J Cardiovasc Dis Res 2010;1: 69-74.
40. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007;49:240-6.
41. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW et al. Mutant Caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12.
42. Priori SG, Napolitano C, MemmiM, Colombi B, Drago F, GaspariniMet al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69-74.
43. Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB et al. Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases. Int J Legal Med 2012;127:139-44.
44. Priori SG, Napolitano C, Tiso N,MemmiM, Vignati G, BloiseRet al. Mutations in the cardiac Ryanodine Receptor Gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196-200.
45. Marjamaa A, Laitinen-Forsblom P, Lahtinen AM, Viitasalo M, Toivonen L, Kontula K et al. Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet 2009;10.
46. Kawamura M, Ohno S, Naiki N, Nagaoka I, Dochi K,Wang Q et al. Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circulation J 2013;77:1705-13.
47. MokNS, Priori SG, Napolitano C, Chan KK, Bloise R, ChanHWet al. Clinical profile and genetic basis of Brugada syndrome in the Chinese population. Hong Kong Med J 2004;10:32-7.
48. Niimura H, Matsunaga A, Kumagai K, Ohwaki K, OgawaM, NoguchiHet al. Genetic analysis of Brugada syndrome inWestern Japan. Circulation J 2004;68:740-6.
49. Crotti L, Kellen CA,Tester DJ, Castelletti S, Giudicessi JR, TorchioMet al. Spectrum and prevalence of mutations involving BrS1-12-Susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol 2012;60:1410-8.
50. Levy-Nissenbaum E, Eldar M,Wang Q, Lahat H, Belhassen B, Ries L et al. Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity. Genet Test 2001;5:331-4.
51. Nakajima T, Kaneko Y, Saito A, Irie T, Tange S, Iso T et al. Identification of Six Novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J 2011;52: 27-31.
52. Garcia-Castro M, GarciaC, Reguero JR, Miar A, Rubin JM,A lvarez Vet al. The Spectrum of SCN5A Gene Mutations in Spanish Brugada Syndrome Patients. Revista Espanola de Cardiologia (English Edition) 2010;63:856-9.
53. Larsen MK, Nissen PH, Berge KE, LerenTP, Kristensen IB, JensenHKet al. Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. Forensic Sci Int 2012;219:33-8.
54. Erdmann J, Daehmlow S, Wischke S, Senyuva M,Werner U, Raible J et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003;64:339-49.
55. Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol 2003;35:841-9.
56. Richard P,Charron P, Carrier L, Ledeuil C, CheavT, PichereauCet al. Hypertrophic cardiomyopathy. Circulation 2003;107:2227-32.
57. Garcia-Castro M, Coto E, Reguero JR, Berrazueta JR, A lvarez V, Alonso B et al. Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy. Revista Espanola de Cardiologia (English Edition) 2009;62:48-56.
58. Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010;55:1444-53.
59. Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F et al. A molecular screening strategy based on b-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med 2006;7:601-7.
60. Andersen P, Havndrup O, Hougs L, Sørensen K, Jensen M, Larsen L et al. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives - Andersen - 2008 - Human Mutation - Wiley Online Library. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat 2009;30:363-70.
61. Millat G, Bouvagnet P, Chevalier P, Dauphin C, Simon Jouk P, Da Costa A et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet 2010;53:261-7.
62. Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou Cet al. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet 2013;50:228-39.
63. Brito D, Miltenberger-Miltenyi G, Pereira SV, Silva D, Diogo AN, Madeira H et al. Sarcomeric hypertrophic cardiomyopathy, Genetic profile in a Portuguese population. Rev Port Cardiol 2012;31:577-87.
64. LiuW, LiuW,HuD, ZhuT, MaZ, Yang J et al. Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. Am J Cardiol 2013; 112:585-9.
65. Marsiglia JDC, Credidio FL, de Oliveira TGM,Reis RF, Antunes MdO, de AraujoAQ et al. Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. Am Heart J 2013;166:775-82.
66. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ et al. Myosin binding proteinCmutations andcompound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:1903-10.
67. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:602-10.
68. Zhang M, Tavora F, Oliveira JB, Li L, Franco M, Fowler D et al. PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA). Circ J 2012;76: 189-94.
69. Christensen AH, Benn M, Bundgaard H, Tybjærg-Hansen A, Haunso S, Svendsen JH. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet 2010;47:736-44.
70. Bao J-r, Yao Y, Wang Y-l, Fan X-h, Sun K, Zhang S et al. Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy [updated 2014/01/28/10:13:04]. http://www.cmj.org/ch/reader/view-abstract. aspx?volume=126&issue=22&start-page=4238.
71. Ohno S, Nagaoka I, Fukuyama M, Kimura H, Itoh H, Makiyama T et al. Agedependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation J 2013;77:1534-42.
72. Quarta G, Syrris P, Ashworth M, Jenkins S, Alapi KZ, Morgan J et al. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2012;33:1128-36.
73. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:1171-9.
74. Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 2010;7:22-9.
75. Fressart V, Duthoit G, Donal E, Probst V, Deharo J-C, Chevalier P et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010;12:861-8.
76. Bhuiyan ZA, Jongbloed JDH, Van Der Smagt J, Lombardi PM, Wiesfeld ACP, Nelen M et al. Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients clinical perspective results from a multicenter study. Circ Cardiovasc Genet 2009;2:418-27.
77. Nakajima T, Kaneko Y, Irie T, Takahashi R, Kato T, Iijima T et al. Compound and digenic heterozygosity indesmosomegenes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients. Circulation J 2012;76:737-43.
78. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006;79:978-84.
79. Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C et al. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet 2011;54:e570-5.
80. van Tintelen JP, Hofstra RMW, Katerberg H, Rossenbacker T, Wiesfeld ACP, du Marchie Sarvaas GJ et al. High yield of LMNAmutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J 2007;154:1130-9.
81. Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H et al. The role of lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail 2009;11:1031-5.
82. Spaendonck-Zwarts KYv, Rijsingen IAWv, Berg MPvd, Deprez RHL, Post JG, Mil AMv et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail 2013;15:628-36.
83. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail 2012;18:296-303.
84. Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, SylviusNet al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J 2005;26:794-803.
85. Taylor MRG, Carniel E, Mestroni L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis 2006;1.
86. Mestroni L, Maisch B, Schwartz K, CharronP, RoccoC,Tesson F et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J 1999;20:93-102.
87. Codd MB, Sugrue DD, Gersh BJ, Melton LJ. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. a population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989;80:564-72.
88. Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992;326:77-82.
89. Grunig E, Tasman JA, Kucherer H, Franz W, Kubler W, Katus HA. Frequency and Phenotypes of Familial Dilated Cardiomyopathy. J Am Coll Cardiol 1998;31: 186-94.
90. Corrado D, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2006;113:1634-7.
91. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, FontaineG et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of theWorking Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994;71:215-8.
92. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia Proposed Modification of the Task Force Criteria. Eur Heart J 2010;31:806-14.
93. Sen-Chowdhry S, Syrris P,Ward D, AsimakiA, Sevdalis E, McKenna WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/ cardiomyopathy provides novel insights into patterns of disease expression. Circulation 2007;115:1710-20.
94. Wilde AAM, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P et al. Proposed diagnostic criteria for the Brugada syndrome consensus report. Circulation 2002;106:2514-9.
95. Chen P-S, Priori SG. The Brugada syndrome. J Am Coll Cardiol 2008;51:1176-80.
96. Van derWerf C, Zwinderman AH, Wilde AA. Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments. Europace 2012;14:175-83.
97. Basso C, Thiene G. Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat?. Cardiovasc Pathol 2005;14:37-41.
98. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004; 44:412-27.
99. Kitzman DW, Scholz DG, Hagen PT, Ilstrup DM, Edwards WD. Age-related changes in normal human hearts during the first 10 decades of life. Part II (Maturity): A quantitative anatomic study of 765 specimens from subjects 20 to 99 years old. Mayo Clin Proc 63:137-46.
100. Elliott P, O'Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN et al. Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy clinical perspective. Circ Cardiovasc Genet 2010;3:314-22.
101. Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D et al. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers 2013;17:553-61.
102. Holst AG, Saber S, Houshmand M, Zaklyazminskaya EV,Wang Y, Jensen HK et al. Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. Can J Cardiol 2012;28:196-200.
103. Carturan E, Tester DJ, Brost BC, Basso C, Thiene G, Ackerman MJ. Postmortem genetic testing for conventional autopsy-negative sudden unexplained death. Am J Clin Pathol 2008;129:391-7.
104. Wong LC, Behr ER. Familial cardiological evaluation in sudden arrhythmic death syndrome: essential but challenging. Europace 2013;15:924-6.
105. Papadakis M, Raju H, Behr ER, Noronha SVD, Spath N, Kouloubinis A et al. Sudden cardiac death with autopsy findings of uncertain significance potential for erroneous interpretation. Circ Arrhythm Electrophysiol 2013;6:588-96.
106. Kumar S, Peters S, Thompson T, Morgan N, Maccicoca I, Trainer A et al. Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm 2013;10:1653-60.
107. McGorrian C, Constant O, Harper N, O'Donnell C, Codd M, Keelan E et al. Familybased cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace 2013;15:1050-8.
108. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Esteban MTT et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 2008;29:1670-80.
109. Tan HL, Hofman N, van Langen IM, van derWal AC, Wilde AAM. Sudden unexplained death heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005;112:207-13.
110. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, CalkinsHet 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). Europace 2011;13:1077-109.
111. Postema PG, Mosterd A, Hofman N, Alders M, Wilde AA. Sodium channelopathies: dowereally understand what's going on?. J Cardiovasc Electrophysiol 2011;22:590-3.
112. Beckmann BM, Osterhues HH, Kauferstein S, Schmidt U,Wolpert C, Miny P et al. Genotype-Phenotype Dilemma in a Patient with the Homozygous SCN5A Mutation E1053K. Essen: German Society of Humangenetics; 2014.