Genetic etiology and evaluation of sudden cardiac death

Current Cardiology Reports

Volumn 15, Issue 8, 2013, Pages

  Dolmatova, Elena ^a   Mahida, Saagar ^b   Ellinor, Patrick T ^a   Lubitz, Steven A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

Genetics; Inherited arrhythmia; Sudden cardiac death; Ventricular tachycardia and fibrillation

Indexed keywords

ARTICLE; BRUGADA SYNDROME; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONGESTIVE CARDIOMYOPATHY; EARLY REPOLARIZATION SYNDROME; FAMILY; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HISTORY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IDIOPATHIC VENTRICULAR FIBRILLATION; LIFESTYLE MODIFICATION; LONG QT SYNDROME; PATIENT COUNSELING; RISK ASSESSMENT; SCREENING; SHORT QT SYNDROME; SUDDEN CARDIAC DEATH; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETIC PREDISPOSITION; HEART ARRHYTHMIA; METHODOLOGY; REVIEW; COMPLICATION; DEATH, SUDDEN, CARDIAC; PROCEDURES;

ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DEATH, SUDDEN, CARDIAC; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; RISK ASSESSMENT;

EID: 84879326104     PISSN: 15233782     EISSN: 15343170     Source Type: Journal    
DOI: 10.1007/s11886-013-0389-8     Document Type: Article

References (130)

1. Go AS,Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Borden WB, et al. Heart disease and stroke statistics-2013 update: a report from theAmerican Heart Association. Circulation. 2013;127(1):e6- e245. doi:10.1161/CIR. 0b013e31828124ad.
2. Nichol G, Thomas E, Callaway CW, Hedges J, Powell JL, Aufderheide TP, et al. Regional variation in out-of-hospital cardiac arrest incidence and outcome. JAMA: J Am Med Assoc. 2008;300(12):1423-31. doi:10.1001/jama.300.12.1423.
3. Chugh SS, Kelly KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation. 2000;102(6):649-54. (Pubitemid 30640665)
4. Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation. 2009;119(8):1085-92. doi:10.1161/CIRCULATIONAHA.108. 804617.
5. Kim JH, Malhotra R, Chiampas G, d' Hemecourt P, Troyanos C, Cianca J, et al. Cardiac arrest during long-distance running races. N Engl J Med. 2012;366(2):130-40. doi:10.1056/NEJMoa11 06468.
6. HarmonKG, Asif IM,Klossner D, Drezner JA. Incidence of sudden cardiac death in national collegiate athletic association athletes. Circulation. 2011;123(15):1594-600. doi:10.1161/CIR CULATIONAHA.110.004622.
7. Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, et al. Prevalence of the congenital long- QT syndrome. Circulation. 2009;120(18):1761-7. doi:10.1161 /CIRCULATIONAHA.109.863209.
8. Priori S, Schwartz P, Napolitano C. Risk stratification in the long- QT syndrome. N Engl J Med. 2003;348:1866-74.
9. Schwartz P, Priori S, Spazzolini C. Genotype-phenotype correlation in the long-QTsyndrome: Gene-specific triggers for life-threatening arrhythmias. Circulation. 2001;103:89-95. (Pubitemid 32050441)
10. Moss A, Robinson J, Gessman L. Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QTsyndrome. Am J Cardiol. 1999;84:876-9. (Pubitemid 29475069)
11. Ackerman MJ, Tester DJ, Porter CJ. Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin Proc. 1999;74(11):1088-94. (Pubitemid 30243241)
12. Vincent GM, Timothy KW, Leppert M, Keating M. The spectrumof symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992;327(12):846-52. doi:10.1056/ NEJM199209173271204.
13. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long- QT syndrome: clinical impact. Circulation. 1999;99(4):529-33. (Pubitemid 29061868)
14. Tester DJ,WillML, Haglund CM, AckermanMJ. Effect of clinical phenotype on yield of long QTsyndrome genetic testing. J Am Coll Cardiol. 2006;47(4):764-8. doi:10.1016/j.jacc.2005.09.056. (Pubitemid 43243098)
15. Vyas H, Hejlik J, Ackerman MJ. Epinephrine QTstress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. Circulation. 2006;113(11):1385-92. doi:10.1161/ CIRCULATIONAHA.105.600445. (Pubitemid 43739434)
16. Takenaka K, Ai T, Shimizu W, Kobori A, Ninomiya T, Otani H, et al. Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome. Circulation. 2003;107(6):838-44. (Pubitemid 36241041)
17. Goldenberg I, Horr S, Moss AJ, Lopes CM, Barsheshet A, McNitt S, 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. 2011;57(1):51-9. doi:10.1016/ j.jacc.2010.07.038.
18. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, 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(14):960-5. doi:10.1056/NEJM19 9810013391404. (Pubitemid 28455098)
19. Ackerman M, Priori S,Willems S, Berul C, Brugada R, Calkins H, et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Hear Rhythm. 2011;8(8):1308-39. This consensus document reviews current indications for and utility of common genetic testing for inherited cardiac arrhythmia and cardiomyopathy conditions.
20. Barsheshet A, Goldenberg I, O-Uchi J. Mutations in cytoplasmic loops are associated with increased risk for cardiac events in type- 1 long QT syndrome. Circulation. 2010;122, A13466.
21. Moss AJ, Shimizu W,Wilde AA, Towbin JA, Zareba W, Robinson JL, 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(19):2481-9. doi:10.1161/ CIRCULATIONAHA.106.665406. (Pubitemid 46763221)
22. Shimizu W, Moss A, Wilde A. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009;54:2052-62.
23. Liu J, Moss A, Jons C. Mutation-specific risk in two genetic forms of type 3 long QT syndrome. Am J Cardiol. 2010;105:210-3.
24. Itoh H, Shimizu W, Hayashi K. Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study. Hear Rhythm. 2010;7:1411-8.
25. Moss AJ, ZarebaW,HallWJ, Schwartz PJ, Crampton RS, Benhorin J, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation. 2000;101(6):616-23. (Pubitemid 30094732)
26. Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantu F, Towbin JA, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 1995;92(12):3381-6.
27. Ruan Y, Liu N, Bloise R, Napolitano C, Priori SG. Gating properties of SCN5A mutations and the response to mexiletine in long- QTsyndrome type 3 patients. Circulation. 2007;116(10):1137-44. doi:10.1161/CIRCULATIONAHA.107. 707877. (Pubitemid 47360216)
28. Schwartz PJ, Spazzolini C, Priori SG, Crotti L, Vicentini A, Landolina M, et al. Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry. Circulation. 2010;122(13):1272-82. doi:10.1161/CIRCULATIONAHA.110.95 0147.
29. Horner JM, Kinoshita M, Webster TL, Haglund CM, Friedman PA, Ackerman MJ. Implantable cardioverter defibrillator therapy for congenital long QT syndrome: a single-center experience. Heart Rhythm. 2010. 7(11):1616-22. 10.1016/ j.hrthm.2010.08.023.
30. Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011;57(7):802- 12. doi:10.1016/j.jacc. 2010.09.048.
31. Goldberg RJ, Bengtson J, Chen ZY, Anderson KM, Locati E, Levy D. Duration of the QT interval and total and cardiovascular mortality in healthy persons (The Framingham Heart Study experience). Am J Cardiol. 1991;67(1):55-8.
32. Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, et al. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011;58(6):587-95. doi:10.1016/j.jacc.2011.03.038.
33. Patel C, Yan GX, Antzelevitch C. Short QTsyndrome: from bench to bedside. Circ Arrhythmia Electrophysiol. 2010;3(4):401-8. doi:10.1161/CIRCEP.109.921056.
34. Gaita F,Giustetto C, Bianchi F, Schimpf R, HaissaguerreM, Calo L, et al. Short QT syndrome: pharmacological treatment. J Am Coll Cardiol. 2004;43(8):1494-9. doi:10.1016/j.jacc.2004.02.034. (Pubitemid 38496360)
35. 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(6):1391-6.
36. Hermida JS, Lemoine JL, Aoun FB, Jarry G, Rey JL, Quiret JC. Prevalence of the Brugada syndrome in an apparently healthy population. Am J Cardiol. 2000;86(1):91-4. (Pubitemid 30365152)
37. Donohue D, Tehrani F, Jamehdor R, Lam C, Movahed MR. The prevalence of Brugada ECG in adult patients in a large university hospital in the western United States. Am Heart Hosp J. 2008;6(1):48-50.
38. Sinner MF, Pfeufer A, Perz S, Schulze-Bahr E, Monnig G, Eckardt L, et al. Spontaneous Brugada electrocardiogram patterns are rare in the German general population: results from the KORA study. Europace. 2009;11(10):1338-44. doi:10.1093/europace/eup205.
39. Miyasaka Y, Tsuji H, Yamada K, Tokunaga S, Saito D, Imuro Y, et al. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J Am Coll Cardiol. 2001;38(3):771-4. (Pubitemid 32835750)
40. Berne P, Brugada J. Brugada syndrome. Circ J. 2012;76(7):1563-71.
41. Probst V, Veltmann C, Eckardt L, Meregalli PG, Gaita F, Tan HL, et al. Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry. Circulation. 2010;121(5):635-43. doi:10.1161/CIRCULATIONAH A.109.887026.
42. 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 (25):3092-6. doi:10.1161/01.CIR.0 000104568.13957.4F. (Pubitemid 38031797)
43. Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, et al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Hear Rhythm. 2009;6(3):341-8. doi:10.1016/j.hrth m.2008.11.009.
44. Priori SG, Gasparini M, Napolitano C, Della Bella P, Ottonelli AG, Sassone B, et al. Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry. J Am Coll Cardiol. 2012;59(1):37-45. doi:10.1016/j.jacc.2011.08.064.
45. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, 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(5):659-70. doi:10 .1161/01.CIR.0000152479.54298.51.
46. Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002;105(11):1342-7. (Pubitemid 34260426)
47. Brugada J, Brugada R, Antzelevitch C, Towbin J, Nademanee K, Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and STsegment elevation in precordial leads V1 to V3. Circulation. 2002;105(1):73-8. (Pubitemid 34049145)
48. Eckardt L, Probst V, Smits JP, Bahr ES, Wolpert C, Schimpf R, et al. Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation. 2005;111(3):257-63. doi:10.1161/01.CIR. 0000153267.21278.8D. (Pubitemid 40165330)
49. Klatsky AL, Oehm R, Cooper RA, Udaltsova N, Armstrong MA. The early repolarization normal variant electrocardiogram: correlates and consequences. Am J Med. 2003;115(3):171- 7. (Pubitemid 37338140)
50. Goldman MJ. RS-T segment elevation in mid- and left precordial leads as a normal variant. Am Heart J. 1953;46(6):817-20.
51. Garg A, Finneran W, Feld GK. Familial sudden cardiac death associated with a terminal QRS abnormality on surface 12-lead electrocardiogram in the index case. J Cardiovasc Electrophysiol. 1998;9(6):642-7. (Pubitemid 28280348)
52. Kalla H, Yan GX, Marinchak R. Ventricular fibrillation in a patient with prominent J (Osborn) waves and ST segment elevation in the inferior electrocardiographic leads: a Brugada syndrome variant? J Cardiovasc Electrophysiol. 2000;11(1):95-8. (Pubitemid 30080951)
53. Takagi M, Aihara N, Takaki H, Taguchi A, Shimizu W, Kurita T, et al. Clinical characteristics of patients with spontaneous or inducible ventricular fibrillation without apparent heart disease presenting with J wave and ST segment elevation in inferior leads. J Cardiovasc Electrophysiol. 2000;11(8):844-8. (Pubitemid 30662989)
54. Shinohara T, Takahashi N, Saikawa T, Yoshimatsu H. Characterization of J wave in a patient with idiopathic ventricular fibrillation. Hear Rhythm. 2006;3(9):1082-4. doi:10.1016/j.hr thm.2006.05.016. (Pubitemid 44283692)
55. Noseworthy PA, Tikkanen JT, Porthan K, Oikarinen L, Pietila A, Harald K, et al. The early repolarization pattern in the general population: clinical correlates and heritability. J Am Coll Cardiol. 2011;57(22):2284-9. doi:10.1016/j.jacc.2011.04.003.
56. ReinhardW, Kaess BM, Debiec R, Nelson CP, Stark K, Tobin MD, et al. Heritability of early repolarization: a population-based study. Circ Cardiovasc Genet. 2011;4(2):134-8. doi:10.1161/CIRCGEN ETICS.110.958298.
57. Junttila MJ, Sager SJ, Tikkanen JT, Anttonen O, Huikuri HV, Myerburg RJ. Clinical significance of variants of J-points and Jwaves: early repolarization patterns and risk. Eur Heart J. 2012;33(21):2639-43. doi:10.1093/eurheartj/ ehs110.
58. Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, et al. Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. Circ Arrhythmia Electrophysiol. 2011;4(6):874-81. doi:10.1161/CIRCEP.111.963983.
59. Haissaguerre M, Chatel S, Sacher F, Weerasooriya R, Probst V, Loussouarn G, et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol. 2009;20(1):93-8. doi:10.1111/ j.1540-8167.2008.01326.x.
60. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpon E, Hu D, Desai M, et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Hear Rhythm. 2010;7(12):1872-82. doi:10.1016/j.hrthm. 2010.08.026.
61. Liu N, Ruan Y, Priori SG. Catecholaminergic polymorphic ventricular tachycardia. Prog Cardiovasc Dis. 2008;51(1):23-30. doi:10.1016/j.pcad.2007.10. 005. (Pubitemid 351965496)
62. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103(2):196-200. (Pubitemid 32095402)
63. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001;103(4):485-90. (Pubitemid 32116230)
64. Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, et al. Autosomal recessive catecholamine- or exerciseinduced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation. 2001;103(23):2822-7. (Pubitemid 32550071)
65. Lahat H, Pras E, Olender T, Avidan N, Ben-AsherE,ManO, et al.A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet. 2001;69(6):1378-84. doi:10. 1086/324565. (Pubitemid 33124218)
66. Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K, et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999;34(7):2035-42. (Pubitemid 30002662)
67. Hayashi M, Denjoy I, Extramiana F, Maltret A, Buisson NR, Lupoglazoff JM, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009;119(18):2426-34. doi:10.1161/CIRCULATIONA HA.108.829267.
68. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106(1):69-74. (Pubitemid 34747444)
69. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995;91(5):1512-9.
70. Fisher JD, Krikler D, Hallidie-Smith KA. Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing. J Am Coll Cardiol. 1999;34(7):2015-22. (Pubitemid 30002659)
71. Gersh B, Maron B, Bonow R, Dearani J, Fifer M, Link M, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124(24):2761-96. This American College of Cardiology and American Heart Association guideline document summarizes the current diagnostic and management recommendations for patients with hypertrophic cardiomyopathy.
72. Nishimura RA, Holmes Jr DR. Clinical practice. Hypertrophic obstructive cardiomyopathy. N Engl J Med. 2004;350(13):1320- 7. doi:10.1056/NEJMcp030779 350/13/1320. (Pubitemid 38375367)
73. Roden D. Cardiovascular genetics and genomics. Chichester: Wiley-Blackwell; 2009.
74. MacRae CA, Ellinor PT. Genetic screening and risk assessment in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44(12):2326-8. doi:10.1016/j.jacc.2004.09.032. (Pubitemid 39647605)
75. Maron BJ, Spirito P, Shen WK, Haas TS, Formisano F, Link MS, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA. 2007;298(4):405-12. doi:10.1001/jama.298. 4.405. (Pubitemid 47124061)
76. Ho CY. Hypertrophic cardiomyopathy in 2012. Circulation. 2012;125(11):1432-8. doi:10.1161/CIRCULATIONAHA.110.017 277.
77. Elliott PM, Gimeno Blanes JR, Mahon NG, Poloniecki JD, McKenna WJ. Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet. 2001;357(9254):420-4. doi:10.1016/S0140-673 6(00)04005-8. (Pubitemid 32156140)
78. Maron MS, Appelbaum E, Harrigan CJ, Buros J, Gibson CM, Hanna C, et al. Clinical profile and significance of delayed enhancement in hypertrophic cardiomyopathy. Circ Heart Fail. 2008;1(3):184-91. doi:10.1161/CIRCHEART FAILURE.108.768119.
79. Bruder O,Wagner A, Jensen CJ, Schneider S, Ong P, Kispert EM, et al. Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56(11):875- 87. doi:10.1016/j.jacc.2010.05.007.
80. O'Hanlon R, Grasso A, Roughton M, Moon JC, Clark S, Wage R, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56(11):867-74. doi:10.1016/j.jacc.2010.05.010.
81. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002; 105:446- 451. (Pubitemid 34141700)
82. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44(9):1903-10. doi:10.1016/j.jacc.2004. 07.045. (Pubitemid 39424094)
83. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42(10):e59. doi:10.1136/jmg.2005.033886.
84. Maron BJ, Chaitman BR, Ackerman MJ, Bayes de Luna A, Corrado D, Crosson JE, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004;109(22):2807- 16. doi:10.1161/01.CIR.0000128363.85581.E1. (Pubitemid 38744555)
85. Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2010;12(11):655-67. doi:10.1097/GIM.0b0 13e3181f2481f.
86. Gillum RF. Idiopathic cardiomyopathy in the United States, 1970- 1982. Am Heart J. 1986;111(4):752-5. (Pubitemid 16104591)
87. Codd MB, Sugrue DD, Gersh BJ, Melton 3rd LJ. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A populationbased study in Olmsted County, Minnesota, 1975-1984. Circulation. 1989;80(3):564-72. (Pubitemid 19231390)
88. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28. doi:10.1056/ NEJMoa1110186. This recent publication demonstrated the striking presence of truncating mutations in titin in approximately 20- 25% of patients with dilated cardiomyopathy.
89. Parvari R, Levitas A. The mutations associated with dilated cardiomyopathy. Biochem Res Int. 2012;2012:639250. doi:10.1155/ 2012/639250.
90. Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med. 2012;18(5):766-73. doi:10.1038/nm.2693.
91. 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. Circ Cardiovasc Genet. 2010;3(4):314-22. doi:10.1161/CIR CGENETICS.110.937805.
92. Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA. Molecular genetics of cardiomyopathy: changing times, shifting paradigms. Cardiovasc J S Afr. 2003;14(3):145-55. (Pubitemid 37010271)
93. Cannom DS. Prevention of sudden cardiac death. J Cardiovasc Electrophysiol. 2005;16 Suppl 1:S21-4. doi:10.1111/j.1540- 8167.2005.50127.x. (Pubitemid 44914765)
94. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2009;15(2):83-97. doi:10.1016/j.cardfail.2009. 01.006.
95. Uhl HS. A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp. 1952;91(3):197-209.
96. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384-98. (Pubitemid 12219036)
97. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318(3):129-33. doi:10.1056/NEJM19880121 3180301. (Pubitemid 18035134)
98. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355(9221):2119-24. doi:10.1016/S0140-6736(00) 02379-5. (Pubitemid 30364661)
99. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9(18):2761-6.
100. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, 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(5):1200-6. doi:10.1086/ 344208. (Pubitemid 35305239)
101. Gemayel C, Pelliccia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2001;38(7):1773-81. (Pubitemid 33116543)
102. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circulation. 2004;110(14):1879-84. doi:10.1161/01.CIR. 0000143375.93288.82. (Pubitemid 39331895)
103. Bhonsale A, James CA, Tichnell C, Murray B, Gagarin D, Philips B, et al. Incidence and predictors of implantable cardioverterdefibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention. J Am Coll Cardiol. 2011;58(14):1485-96. doi:10.1016/j.jacc. 2011.06.043.
104. Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823-32. doi:10.1161/CIRCU LATIONAHA.105.542266. (Pubitemid 43739479)
105. 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. Circulation. 2010;121(13):1533-41. doi:10.1161/ CIRCULATIONAHA.108.840827. This paper summarizes the 2010 revised task force criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy.
106. Kirchhof P, Fabritz L, Zwiener M,Witt H, Schafers M, Zellerhoff S, et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobindeficient mice. Circulation. 2006;114(17):1799-806. doi:10.1161/ CIRCULATIONAHA.106.624502. (Pubitemid 44673354)
107. Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010;55(6):587-97. doi:10.1016/j.jacc.2009.11.020.
108. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J. 2005;26(16):1666-75. doi:10.1093/ eurheartj/ehi341. (Pubitemid 41389699)
109. Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, 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(13):1710-20. doi:10.1161/ CIRCULATIONAHA.106.660 241. (Pubitemid 46648607)
110. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113(13):1641-9. doi:10.1161/ CIRCULATIONAHA.105.568642.
111. Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57(23):2317-27. doi:10.1016/j.jacc.2010.12.036.
112. van derWerf C, Hofman N, Tan HL, van Dessel PF, Alders M, van der Wal AC, et al. Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. Hear Rhythm. 2010;7(10):1383-9. doi:10.1016/j.hrthm.2010.05.036.
113. van der Werf C, van Langen IM, Wilde AA. Sudden death in the young: what do we know about it and how to prevent? Circ Arrhythmia Electrophysiol. 2010;3(1):96-104. doi:10.1161/ CIRCEP.109.877142
114. Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84(4):468-76. doi:10.1016/ j.ajhg.2009.02.009.
115. Radicke S, Cotella D, Graf EM, Ravens U,Wettwer E. Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3. J Physiol. 2005;565(Pt 3):751-6. doi:10.1113/ jphysiol.2005.087312. (Pubitemid 40903290)
116. Krahn AD, Healey JS, Chauhan V, Birnie DH, Simpson CS, Champagne J, et al. Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009;120(4):278- 85. doi:10.1161/CIRCULATIONAHA.109.853143.
117. Champagne J, Geelen P, Philippon F, Brugada P. Recurrent cardiac events in patients with idiopathic ventricular fibrillation, excluding patients with the Brugada syndrome. BMC Med. 2005;3(1):1. doi:10.1186/1741-7015-3-1. (Pubitemid 40251705)
118. Knecht S, Sacher F, Wright M, Hocini M, Nogami A, Arentz T, et al. Long-term follow-up of idiopathic ventricular fibrillation ablation: a multicenter study. J Am Coll Cardiol. 2009;54(6):522- 8. doi:10.1016/j.jacc. 2009.03.065.
119. Noda T, Shimizu W, Taguchi A, Aiba T, Satomi K, Suyama K, et al. Malignant entity of idiopathic ventricular fibrillation and polymorphic ventricular tachycardia initiated by premature extrasystoles originating from the right ventricular outflow tract. J Am Coll Cardiol. 2005;46(7):1288-94. doi:10.1016/j.jacc.2005.05.077. (Pubitemid 41615551)
120. Milan DJ, Lubitz SA, Kaab S, Ellinor PT. Genome-wide association studies in cardiac electrophysiology: recent discoveries and implications for clinical practice. Hear Rhythm. 2010;7(8):1141- 8. doi:10.1016/j.hrthm.2010.04.021.
121. Arking DE, Junttila MJ, Goyette P, Huertas-Vazquez A, Eijgelsheim M, Blom MT, et al. Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet. 2011;7(6):e1002158.
122. Bezzina CR, Pazoki R, Bardai A, Marsman RF, de Jong JS, Blom MT, et al. Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat Genet. 2010;42(8):688-91. doi:10.1038/ng.623.
123. Chambers JC, Zhao J, Terracciano CM, Bezzina CR, Zhang W, Kaba R, et al. Genetic variation in SCN10A influences cardiac conduction. Nat Genet. 2010;42(2):149-52. doi:10.1038/ng.516.
124. Ellinor PT, Lunetta KL, Albert CM, Glazer NL, Ritchie MD, Smith AV, et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet. 2012;44(6):670-5. doi:10. 1038/ng.2261.
125. Yang T, Atack TC, Stroud DM, Zhang W, Hall L, Roden DM. Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. Circ Res. 2012;111(3):322-32. doi:10. 1161/CIRCRESAHA.112.265173.
126. Westaway SK, Reinier K, Huertas-Vazquez A, Evanado A, Teodorescu C, Navarro J, et al. Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease. Circ Cardiovasc Genet. 2011;4(4):397-402. doi:10.1161/CIRCGE NETICS.111.959916.
127. London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na + current and causes inherited arrhythmias. Circulation. 2007;116(20):2260-8. doi:10.1161/ CIRCULATIONAHA.107.703330. (Pubitemid 350100331)
128. Chang KC, Barth AS, Sasano T, Kizana E, Kashiwakura Y, Zhang Y, et al. CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart. Proc Natl Acad Sci U S A. 2008;105(11):4477-82. doi:10.1073/pnas.0709118105. (Pubitemid 351754405)
129. Jamshidi Y, Nolte IM, Dalageorgou C, Zheng D, Johnson T, Bastiaenen R, et al. Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol. 2012;60(9):841-50. doi:10.1016/j.jacc.2012.03.031.
130. Ashley EA, Hershberger RE, Caleshu C, Ellinor PT, Garcia JG, Herrington DM, et al. Genetics and cardiovascular disease: a policy statement from the American Heart Association. Circulation. 2012;126(1):142-57. doi:10.1161/CIR.0b013e31825b07f8.