HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

Heart Rhythm

Volumn 8, Issue 8, 2011, Pages 1308-1339

  Ackerman, Michael J ^a   Priori, Silvia G ^b,c   Willems, Stephan ^d   Berul, Charles ^e   Brugada, Ramon ^f   Calkins, Hugh ^g   Camm, A John ^h   Ellinor, Patrick T ⁱ   Gollob, Michael ^j   Hamilton, Robert ^k   Hershberger, Ray E ^l   Judge, Daniel P ^g,m   Le Marec, Herv ⁿ   McKenna, William J ^o   Schulze Bahr, Eric ^p   Semsarian, Chris ^q   Towbin, Jeffrey A ^r   Watkins, Hugh ^s   Wilde, Arthur ^t   Wolpert, Christian ^u   Zipes, Douglas P ^v   more..

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF PAVIA   (Italy)

^c NEW YORK UNIVERSITY   (United States)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f UNIVERSITY OF GIRONA   (Spain)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j UNIVERSITY OF OTTAWA   (Canada)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

^l UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^m UNIVERSITÉ PARIS DESCARTES   (France)

ⁿ L INSTITUT DU THORAX   (France)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

^p UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^q UNIVERSITY OF SYDNEY   (Australia)

^r CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^s UNIVERSITY OF OXFORD   (United Kingdom)

^t UNIVERSITY OF AMSTERDAM   (Netherlands)

^u Ludwigsburg Clinic   (Germany)

^v INDIANA UNIVERSITY   (United States)

more..

Author keywords

Cardiomyopathies; Channelopathies; Genetics

Indexed keywords

ARRHYTHMOGENESIS; ARTICLE; BRUGADA SYNDROME; CARDIOMYOPATHY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHANNELOPATHY; CONSENSUS; DIAGNOSTIC APPROACH ROUTE; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; SHORT QT SYNDROME;

BRUGADA SYNDROME; CARDIOMYOPATHIES; CARDIOMYOPATHY, HYPERTROPHIC; CARDIOMYOPATHY, RESTRICTIVE; CHANNELOPATHIES; DISEASE PROGRESSION; GENETIC COUNSELING; GENETIC TESTING; HUMANS;

EID: 79960867817     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2011.05.020     Document Type: Article

References (278)

1. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death Circulation 114 2006 e385 e484
2. J. Liebman Some legal, social, and ethical issues related to the genetic testing revolution, as exemplified in the long QT syndrome J Electrocardiol 34 Suppl 2001 183 188 (Pubitemid 34083921)
3. R.M. Nelson, J.R. Botkjin, and E.D. Kodish (Committee on Bioethics) Ethical issues with genetic testing in pediatrics Pediatrics 107 2001 1451 1455 (Pubitemid 32525235)
4. K.S.W.H. Hendriks, M.M.W.B. Hendriks, and E. Birnie Familial disease with a risk on sudden death: a longitudinal study of the psychological consequences of predictive testing for Long QT syndrome Heart Rhythm 5 2008 719 724
5. I. Christiaans, I.M. van Langen, and E. Birnie Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study Am J Med Genet 149A 2009 602 612
6. D.J. Tester, and M.J. Ackerman Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice Circulation 123 2011 1021 1037
7. C. Napolitano, S.G. Priori, and P.J. Schwartz Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice Jama 294 2005 2975 2980 (Pubitemid 41817658)
8. N. Hofman, H.L. Tan, and M. Alders Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? J Am Coll Cardiol 55 2010 2570 2576
9. M.J. Ackerman, D.J. Tester, and G. Jones 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 78 2003 1479 1487 (Pubitemid 37475631)
10. M.J. Ackerman, I. Splawski, and J.C. Makielski Spectrum and prevalence of cardiac sodium channel variants among Black, White, Asian, Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/Long QT syndrome genetic testing Heart Rhythm 1 2004 600 607 (Pubitemid 39462721)
11. S. Kapa, D.J. Tester, and B.A. Salisbury Genetic testing for long QT syndromedistinguishing pathogenic mutations from benign variants Circulation 120 2009 1752 1760
12. J.D. Kapplinger, A.P. Landstrom, and B.A. Salisbury Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise J Am Coll Cardiol 57 2011 2317 2327
13. M.J. Ackerman, A. Khositseth, and D.J. Tester Congenital long QT syndrome in electrical diseases of the heart; genetics mechanisms, treatment, prevention 2008 Springer Publishing New York 462 482
14. S.G. Priori, C. Napolitano, and P.J. Schwartz Low penetrance in the long-QT syndrome: clinical impact Circulation 99 1999 529 533 (Pubitemid 29061868)
15. D.J. Tester, M.L. Will, and C.M. Haglund Effect of clinical phenotype on yield of long QT syndrome genetic testing J Am Coll Cardiol 47 2006 764 768 (Pubitemid 43243098)
16. G.M. Vincent, K.W. Timothy, and M. Leppert The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome N Engl J Med 327 1992 846 852
17. S.G. Priori, P.J. Schwartz, and C. Napolitano Risk stratification in the long-QT syndrome N Engl J Med 348 2003 1866 1874 (Pubitemid 36532312)
18. H. Vyas, J. Hejlik, and M.J. Ackerman Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response Circulation 113 2006 1385 1392 (Pubitemid 43739434)
19. K. Takenaka, T. Ai, and W. Shimizu Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome Circulation 107 2003 838 844 (Pubitemid 36241041)
20. W. Shimizu, T. Noda, and H. Takaki Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome Heart Rhythm 1 2004 276 283 (Pubitemid 39549754)
21. A.D. Krahn, M. Gollob, and R. Yee Diagnosis of unexplained cardiac arrest: role of adrenaline and procainamide infusion Circulation 112 2005 2228 2234 (Pubitemid 41464564)
22. S. Viskin, P.G. Postema, and Z.A. Bhuiyan The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome J Am Coll Cardiol 55 2010 1955 1961
23. P.J. Schwartz, A.J. Moss, G.M. Vincent, and R.S. Crampton Diagnostic criteria for the long QT syndrome An update Circulation 88 1993 782 784 (Pubitemid 23228078)
24. P.J. Schwartz, M. Stramba-Badiale, and L. Crotti Prevalence of the congenital long-QT syndrome Circulation 120 2009 1761 1767
25. I. Goldenberg, A.J. Moss, and D.R. Peterson Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome Circulation 117 2008 2184 2191
26. J.B. Hobbs, D.R. Peterson, and A.J. Moss Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome Jama 296 2006 1249 1254 (Pubitemid 44394896)
27. G. Monnig, L. Eckardt, and H. Wedekind Electrocardiographic risk stratification in families with congenital long QT syndrome Eur Heart J 27 2006 2074 2080 (Pubitemid 44412814)
28. A.J. Sauer, A.J. Moss, and S. McNitt Long QT syndrome in adults J Am Coll Cardiol 49 2007 329 337 (Pubitemid 46097383)
29. C. Jons, A.J. Moss, and I. Goldenberg Risk of fatal arrhythmic events in long QT syndrome patients after syncope J Am Coll Cardiol 55 2010 783 788
30. Q. Wang, J. Shen, and I. Splawski SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 805 811
31. P.J. Schwartz Idiopathic long QT syndrome: progress and questions Am Heart J 109 1985 399 411 (Pubitemid 16248481)
32. M.E. Curran, I. Splawski, and K.W. Timothy A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome Cell 80 1995 795 798
33. Q. Wang, M.E. Curran, and I. Splawski Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias Nat Genet 12 1996 17 23 (Pubitemid 26011314)
34. G.W. Abbott, F. Sesti, and I. Splawski MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia Cell 97 1999 175 187
35. N.M. Plaster, R. Tawil, and M. Tristani-Firouzi Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome Cell 105 2001 511 519 (Pubitemid 32520856)
36. I. Splawski, K.W. Timothy, and L.M. Sharpe Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 2004 19 31 (Pubitemid 39349317)
37. M. Vatta, M.J. Ackerman, and B. Ye Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome Circulation 114 2006 2104 2112 (Pubitemid 44747890)
38. A. Medeiros-Domingo, T. Kaku, and D.J. Tester SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome Circulation 116 2007 134 142 (Pubitemid 47057518)
39. K. Ueda, C. Valdivia, and A. Medeiros-Domingo Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex Proc Natl Acad Sci U S A 105 2008 9355 9360
40. Y. Yang, B. Liang, and J. Liu Identification of a Kir3.4 mutation in congenital long QT syndrome Am J Hum Genet 86 2010 872 880
41. S.G. Priori, J. Barhanin, and R.N. Hauer Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III Circulation 99 1999 674 681 (Pubitemid 29077367)
42. C.A. Eddy, J.M. MacCormick, and S.K. Chung Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome Heart Rhythm 5 2008 1275 1281
43. Tester DJ, Benton AJ, Train L, et al. Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol;106:11241128.
44. I. Goldenberg, A.J. Moss, and W. Zareba Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome J Cardiovasc Electrophysiol 17 2006 1161 1168 (Pubitemid 44583855)
45. P.J. Schwartz, C. Spazzolinsi, and L. Crotti The Jervell and Lange-Nielsen syndrome Natural history, molecular basis, and clinical outcome Circulation 113 2006 783 790
46. J.D. Kapplinger, D.J. Tester, and B.A. Salisbury Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 2009 1297 1303
47. P.J. Schwartz The congenital long QT syndromes from genotype to phenotype: clinical implications J Intern Med 259 2006 39 47
48. N.W. Taggart, C.M. Haglund, and D.J. Tester Diagnostic miscues in congenital long-QT syndrome Circulation 115 2007 2613 2620 (Pubitemid 46791359)
49. C. Napolitano, S.G. Priori, and P.J. Schwartz Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice Jama 294 2005 2975 2980 (Pubitemid 41817658)
50. A. Medeiros-Domingo, Z.A. Bhuiyan, and D.J. Tester The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis J Am Coll Cardiol 54 2009 2065 2074
51. D.J. Tester, L.J. Kopplin, and M.L. Will Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing Heart Rhythm 2 2005 1099 1105 (Pubitemid 41472159)
52. S. Kapa, D.J. Tester, and B.A. Salisbury Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants Circulation 120 2009 1752 1760
53. P. Rautaharju, B. Surawicz, and L. Gettes AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval J Am Coll Cardiol 53 2009 982 991
54. P.J. Schwartz, and M. Stramba-Badiale Repolarization abnormalities in the newborn J Cardiovasc Pharmacol 55 2010 539 543
55. P. Yang, H. Kanki, and B. Drolet Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes Circulation 105 2002 1943 1948 (Pubitemid 34437622)
56. A.D. Paulussen, R.A. Gilissen, and M. Armstrong Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients J Mol Med 82 2004 182 188 (Pubitemid 38392168)
57. A. Lehtonen, H. Fodstad, and P. Laitinen-Forsblom Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes Heart Rhythm 4 2007 603 607 (Pubitemid 46655584)
58. L. Zhang, K.W. Timothy, and G.M. Vincent Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes Circulation 102 2000 2849 2855
59. P.J. Schwartz, S.G. Priori, and C. Spazzolini Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 2001 89 95 (Pubitemid 32050441)
60. M.J. Ackerman The long QT syndrome Pediatr Rev 19 1998 232 238
61. G. Choi, L.J. Kopplin, and D.J. Tester Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes Circulation 110 2004 2119 2124 (Pubitemid 39372488)
62. A.J. Moss, W. Shimizu, and A.A. Wilde Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene Circulation 115 2007 2481 2489 (Pubitemid 46763221)
63. W. Shimizu, A.J. Moss, and A.A. Wilde Genotype-phenotype aspects of type 2 long QT syndrome J Am Coll Cardiol 54 2009 2052 2062
64. L. Crotti, C. Spazzolini, and P.J. Schwartz 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 116 2007 2366 2375 (Pubitemid 350145071)
65. N. Makita, E. Behr, and W. Shimizu The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome J Clin Invest 118 2008 2219 2229 (Pubitemid 351872340)
66. E. Villain, I. Denjoy, and J.M. Lupoglazoff Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome Eur Heart J 25 2004 1405 1411 (Pubitemid 39078249)
67. G. Monnig, J. Kobe, and A. Loher Implantable cardioverter-defibrillator therapy in patients with congenital long-QT syndrome: a long-term follow-up Heart Rhythm 2 2005 497 504 (Pubitemid 40521363)
68. P.J. Schwartz, C. Spazzolini, and S.G. Priori 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 122 2010 1272 1282
69. J.M. Horner, M. Kinoshita, and T.L. Webster Implantable cardioverter defibrillator therapy for congenital long QT syndrome: a single-center experience Heart Rhythm 7 2010 1616 1622
70. A.J. Moss, W. Zareba, and W.J. Hall Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome Circulation 101 2000 616 623 (Pubitemid 30094732)
71. P.J. Schwartz, S.G. Priori, and E.H. Locati 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 92 1995 3381 3386
72. Y. Ruan, N. Liu, and R. Bloise Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients Circulation 116 2007 1137 1144 (Pubitemid 47360216)
73. A.J. Moss, J.R. Windle, and W.J. Hall Safety and efficacy of flecainide in subjects with Long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial Ann Noninvasive Electrocardiol 10 2005 59 66 (Pubitemid 44933555)
74. P. Coumel, J. Fidelle, and V. Lucet Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases Br Heart J 40 1978 28 37
75. A. Leenhardt, V. Lucet, and I. Denjoy Catecholaminergic polymorphic ventricular tachycardia in children A 7-year follow-up of 21 patients Circulation 91 1995 1512 1519
76. S.G. Priori, C. Napolitano, and M. Memmi Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia Circulation 106 2002 69 74 (Pubitemid 34747444)
77. S.G. Priori, C. Napolitano, and N. Tiso Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2001 196 200 (Pubitemid 32095402)
78. H. Lahat, E. Pras, and T. Olender 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 69 2001 1378 1384 (Pubitemid 33124218)
79. R. Bai, C. Napolitano, and R. Bloise Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing Circ Arrhythm Electrophysiol 2 2009 6 15
80. C.H. George, H. Jundi, and N.L. Thomas Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies J Mol Cell Cardiol 42 2007 34 50 (Pubitemid 44958614)
81. M. Raffaele di Barletta, S. Viatchenko-Karpinski, and A. Nori Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia Circulation 114 2006 1012 1019 (Pubitemid 44358877)
82. D.J. Tester, M. Dura, and E. Carturan A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors Heart Rhythm 4 2007 733 739 (Pubitemid 46850614)
83. M. Tristani-Firouzi, J.L. Jensen, and M.R. Donaldson Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) J Clin Invest 110 3 2002 381 388 (Pubitemid 34847970)
84. P.J. Mohler, I. Splawski, and C. Napolitano A cardiac arrhythmia syndrome caused by loss of ankyrin-B function Proc Natl Acad Sci U S A 101 2004 9137 9142 (Pubitemid 38781624)
85. P. Brugada, and J. Brugada Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome J Am Coll Cardiol 20 1992 1391 1396
86. C. Antzelevitch, P. Brugada, and M. Borggrefe Brugada syndrome Report of the Second Consensus Conference Heart Rhythm 2 2005 429 440 (Pubitemid 40439292)
87. S. Fowler, and S. Priori Clinical Spectrum of patients with a Brugada ECG Curr Opin Cardiol 24 2009 74 81
88. A.K. Gehi, T.D. Duong, and L.D. Metz Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis J Cardiovasc Electrophysiol 17 2006 577 583
89. S.G. Priori, C. Napolitano, and M. Gasparini Natural history of Brugada syndrome: insights for risk stratification and management Circulation 105 2002 1342 1347 (Pubitemid 34260426)
90. M. Paul, J. Gerss, and E. Schulze-Bahr Role of programmed ventricular stimulation in patients with Brugada syndromea meta-analysis of worldwide published data Eur Heart J 28 2007 2126 2133 (Pubitemid 47517430)
91. V. Probst, C. Veltmann, and L. Eckardt Long-term prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada syndrome registry Circulation 121 2010 635 643
92. P. Brugada, R. Brugada, and L. Mont Natural history of Brugada syndrome: the prognostic value of programmed electrical stimulation of the heart J Cardiovasc Electrophysiol 14 2003 455 457 (Pubitemid 36583902)
93. S. Viskin, A.A. Wilde, and H.L. Tan Empiric quinidine therapy for asymptomatic Brugada syndrome: time for a prospective registry Heart Rhythm 6 2009 401 404
94. J.D. Kapplinger, D.J. Tester, and M. Alders An international compendium of mutation in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Heart Rhythm 1 2010 33 46
95. J.P.P. Smits, L. Eckardt, and V. Probst Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non SCN5A related patients J Am Coll Cardiol 40 2002 350 356 (Pubitemid 34756299)
96. C. Antzelevitch, G.D. Pollevick, and J.M. Cordeiro 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 115 2007 442 449 (Pubitemid 46184195)
97. P.G. Meregalli, H.L. Tan, and V. Probst Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies Heart Rhythm 6 2009 341 348
98. P.G. Postema, C. Wolpert, and A.S. Amin Drugs and Brugada syndrome patients: review of the literature, recommendations and an up-to-date website (www.brugadadrugs.org) Heart Rhythm 6 2009 1335 1341
99. V. Probst, F. Kyndt, and F. Potet Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease J Am Coll Cardiol 41 2003 643 652 (Pubitemid 36223331)
100. A.J. Brink, and M. Torrington Progressive familial heart blocktwo types S Afr Med J 52 1977 53 59 (Pubitemid 8149191)
101. P.G. Postema, B.M. Van den, and J.P. van Tintelen Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide Neth Heart J 17 2009 422 428
102. D.W. Benson, D.W. Wang, and M. Dyment Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A) J Clin Invest 112 2003 1019 1028 (Pubitemid 38056317)
103. J.J. Schott, D.W. Benson, and C.T. Basson Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108 111 (Pubitemid 28354055)
104. M. Paul, S. Zumhagen, and B. Stallmeyer Genes causing inherited forms of cardiomyopathies A current compendium Herz 34 2009 98 109
105. C.R. Bezzina, M.B. Rook, and W.A. Groenewegen Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system Circ Res 92 2003 159 168 (Pubitemid 36254272)
106. A. Neu, M. Eiselt, and M. Paul A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease Hum Mutat 31 2010 E1609 E1621
107. J.J. Schott, C. Alshinawi, and F. Kyndt Cardiac conduction defects associate with mutations in SCN5A Nat Genet 23 1999 20 21
108. H.L. Tan, M.T. Bink-Boelkens, and C.R. Bezzina A sodium-channel mutation causes isolated cardiac conduction disease Nature 409 2001 1043 1047 (Pubitemid 32204056)
109. H. Watanabe, T.T. Koopmann, and S. Le Scouarnec Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans J Clin Invest 118 2008 2260 2268 (Pubitemid 351872343)
110. M. Kruse, E. Schulze-Bahr, and V. Corfield Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I J Clin Invest 119 2009 2737 2744
111. H. Liu, L. El Zein, and M. Kruse Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease Circ Cardiovasc Genet 3 2010 374 385
112. E. Schulze-Bahr, D. Isbrandt, and A. Neu A mutation in the cardiac pacemaker channel gene hHCN4 is linked to human sinus node disease Am J Hum Genet 69 2001 183
113. R. Milanesi, M. Baruscotti, and T. Gnecchi-Ruscone Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel N Engl J Med 354 2006 151 157 (Pubitemid 43076712)
114. V. Garg, I.S. Kathiriya, and R. Barnes GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 424 2003 443 447 (Pubitemid 36917494)
115. K. Spaendonck-Zwarts, L. van Hessem, and J.D. Jongbloed Desmin-related myopathy: a review and meta-analysis Clin Genet 2010 Jul 21[Epub ahead of print]
116. A. Perrot, S. Hussein, and V. Ruppert Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy Basic Res Cardiol 104 2009 90 99
117. J.P. van Tintelen, R.M. Hofstra, and H. Katerberg High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics Am Heart J 154 2007 1130 1139 (Pubitemid 350116040)
118. W.P. McNair, L. Ku, and M.R. Taylor SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia Circulation 110 2004 2163 2167 (Pubitemid 39372495)
119. M. Hesse, C.S. Kondo, and R.B. Clark Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a Cardiovasc Res 75 2007 498 509 (Pubitemid 47082512)
120. T.M. Olson, V.V. Michels, and J.D. Ballew Sodium channel mutations and susceptibility to heart failure and atrial fibrillation Jama 293 2005 447 454
121. R. Shi, Y. Zhang, and C. Yang The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death Europace 10 2008 1329 1335
122. M.J. Ackerman, I. Splawski, and J.C. Makielski 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 1 2004 600 607 (Pubitemid 39462721)
123. A.E. Epstein, J.P. DiMarco, and K.A. Ellenbogen ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary Heart Rhythm 5 2008 934 955
124. I. Gussak Idiopathic short QT interval: a new clinical syndrome? Cardiology 94 2000 99
125. F. Gaita Short QT syndrome: a familial cause of sudden death Circulation 108 2003 965
126. T.E. Rhodes, R.L. Abraham, and R.C. Welch Cardiac potassium channel dysfunction in sudden infant death syndrome J Mol Cell Cardiol 44 2008 571 581
127. O. Anttonen, M.J. Junttila, and H. Rissanen Prevalence and prognostic significance of short QT-interval in a middle-aged Finnish population Circulation 116 2007 714 720 (Pubitemid 47255988)
128. A. Funada, K. Hayashi, and I. Hidekazu Assessment of QT-intervals and prevalence of Short QT syndrome in Japan Clin Cardiol 31 2008 270 274 (Pubitemid 351961238)
129. J.W. Mason, D.J. Ramseth, and D.O. Chanter Electrocardiographic reference ranges derived from 79,743 ambulatory subjects J Electrocardiol 40 2007 228 234
130. R. Kobza, M. Roos, and B. Niggli Prevalence of long and short QT in a young population of 41,767 predominantly male Swiss conscripts Heart Rhythm 6 2009 652 657
131. M.H. Gollob, C. Redpath, and J.D. Roberts The short QT syndrome: proposed diagnostic criteria J Am Coll Cardiol 57 2011 802 812
132. R. Schimpf Congenital Short QT syndrome and implantable cardioverter defibrillator treatment: inherent risk for inappropriate shock delivery J Cardiovasc Electrophysiol 14 2003 1273
133. S. Viskin Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls Heart Rhythm 1 2004 587
134. C. Wolpert Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG J Cardiovasc Electrophysiol 16 2005 54
135. F. Gaita Short QT syndrome: pharmacological treatment J Am Coll Cardiol 43 2004 1494
136. R. Brugada Sudden death associated with short-QT syndrome linked to mutations in HERG Circulation 109 2004 30
137. J.M. Cordeiro Modulation of Ikr inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome Cardiovasc Res 67 2005 498
138. C. Bellocq Mutation in the KCNQ1 gene leading to the short QT-interval syndrome Circulation 109 2004 2394
139. K. Hong De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero Cardiovasc Res 68 2005 433
140. S.G. Priori A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene Circ Res 96 2005 800
141. K. Hong Short QT syndrome et atrial fibrillation caused by mutation in KCNH2 J Cardiovas Electrophysiol 16 2005 394
142. C. Antzelevitch, G.D. Pollevick, and J.M. Cordeiro 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 115 2007 442 449 (Pubitemid 46184195)
143. V. Fuster, L.E. Ryden, and D.S. Cannom ACC/AHA/ESC 2006 guidelines for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the European Society of Cardiology Committee for Practice Guidelines (Writing committee to revise the 2001 guidelines for the management of patients with atrial fibrillation): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society Circulation 114 2006 e257 e354
144. S.A. Lubitz, X. Yin, and J.D. Fontes Association between familial atrial fibrillation and risk of new-onset atrial fibrillation Jama 304 2010 2263 2269
145. D.O. Arnar, S. Thorvaldsson, and T.A. Manolio Familial aggregation of atrial fibrillation in Iceland Eur Heart J 27 2006 708 712
146. Y.H. Chen, S.J. Xu, and S. Bendahhou Kcnq1 gain-of-function mutation in familial atrial fibrillation Science 299 2003 251 254 (Pubitemid 36125211)
147. S. Das, S. Makino, and Y.F. Melman Mutation in the s3 segment of kcnq1 results in familial lone atrial fibrillation Heart Rhythm 6 2009 1146 1153
148. M. Xia, Q. Jin, and S. Bendahhou A kir2.1 gain-of-function mutation underlies familial atrial fibrillation Biochem Biophys Res Commun 332 2005 1012 1019 (Pubitemid 40798187)
149. Y. Yang, M. Xia, and Q. Jin Identification of a kcne2 gain-of-function mutation in patients with familial atrial fibrillation Am J Hum Genet 75 2004 899 905 (Pubitemid 39390498)
150. T. Makiyama, M. Akao, and S. Shizuta A novel scn5a gain-of-function mutation m1875t associated with familial atrial fibrillation J Am Coll Cardiol 52 2008 1326 1334
151. T.M. Olson, A.E. Alekseev, and X.K. Liu Kv1.5 channelopathy due to kcna5 loss-of-function mutation causes human atrial fibrillation Hum Mol Genet 15 2006 2185 2191 (Pubitemid 43985509)
152. D.M. Hodgson-Zingman, M.L. Karst, L.V. Zingman, D.M. Heublein, D. Darbar, K.J. Herron, J.D. Ballew, M. de Andrade, J.C. Burnett Jr, and T.M. Olson Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation N Engl J Med 359 2008 158 165 (Pubitemid 351962039)
153. M.H. Gollob, D.L. Jones, and A.D. Krahn Somatic mutations in the connexin 40 gene (gja5) in atrial fibrillation N Engl J Med 354 2006 2677 2688
154. D.F. Gudbjartsson, D.O. Arnar, and A. Helgadottir Variants conferring risk of atrial fibrillation on chromosome 4q25 Nature 448 2007 353 357 (Pubitemid 47080348)
155. P.T. Ellinor, K.L. Lunetta, and N.L. Glazer Common variants in kcnn3 are associated with lone atrial fibrillation Nat Genet 42 2010 240 244
156. E.J. Benjamin, K.M. Rice, and D.E. Arking Variants in zfhx3 are associated with atrial fibrillation in individuals of European ancestry Nat Genet 41 2009 879 881
157. D.F. Gudbjartsson, H. Holm, and S. Gretarsdottir A sequence variant in zfhx3 on 16q22 associates with atrial fibrillation and ischemic stroke Nat Genet 41 2009 876 878
158. B.J. Maron, W.J. McKenna, G.K. Danielson Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines J Am Coll Cardiol 42 2003 1687 1713
159. H. Watkins, L. Thierfelder, and D.S. Hwang Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations J Clin Invest 90 1992 1666 1671
160. B.J. Maron, P. Spirito, and W.K. Shen Implantable cardioverter- defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy Jama 298 2007 405 412 Erratum in JAMA 2007;298:1516 (Pubitemid 47124061)
161. L. Thierfelder, H. Watkins, and C. MacRae Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere Cell 77 1994 701 712
162. P. Richard, P. Charron, and L. Carrier Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy Circulation 107 2003 2227 2232 (Pubitemid 36547217)
163. P. Jskelinen, R. Miettinen, and P. Krkkinen Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes Ann Med 36 2004 23 32 (Pubitemid 38230696)
164. C. Geier, K. Gehmlich, and E. Ehler Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy Hum Mol Genet 17 2008 2753 2765
165. C. Chiu, R.D. Bagnall, and J. Ingles Mutations in a-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis J Am Coll Cardiol 55 2010 1127 1135
166. H. Niimura, L.L. Bachinski, and S. Sangwatanaroj Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy N Engl J Med 338 1998 1248 1257 (Pubitemid 28216578)
167. H. Watkins, W.J. McKenna, and L. Thierfelder Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy N Engl J Med 332 1995 1058 1064
168. S.L. Van Driest Yield of genetic testing in hypertrophic cardiomyopathy Mayo Clin Proc 80 2005 739 744 (Pubitemid 40770360)
169. P.S. Andersen, O. Havndrup, and L. Hougs Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives Hum Mutat 30 2009 363 370
170. F. Girolami, C.Y. Ho, and C. Semsarian Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations J Am Coll Cardiol 55 2010 1444 1453
171. J. Ingles, A. Doolan, and C. Chiu Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling J Med Genet 42 2005 e59
172. S. Wordsworth, J. Leal, and E. Blair DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model Eur Heart J 31 2010 926 935
173. P.M. Elliott, J. Poloniecki, and S. Dickie Sudden death in hypertrophic cardiomyopathy: identification of high risk patients J Am Coll Cardiol 36 2000 2212 2218
174. I. Olivotto, F. Girolami, and M.J. Ackerman Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy Mayo Clin Proc 83 2008 630 638 (Pubitemid 351810562)
175. T. Force, R.O. Bonow, and S.R. Houser Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute Circulation 122 2010 1130 1133
176. K. Abozguia, P. Elliott, and W.J. McKenna The metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy Circulation 122 2010 1562 1569
177. M. Penicka, P. Gregor, and R. Kerekes The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study J Mol Diagn 11 2009 35 41
178. C. Semsarian, I. Ahmad, and M. Giewat The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model J Clin Invest 109 2002 1013 1020 (Pubitemid 34408576)
179. P. Teekakirikul, S. Eminaga, and O. Toka Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta J Clin Invest 120 2010 3520 3529
180. C. Basso, D. Corrado, and G. Thiene Cardiovascular causes of sudden death in young individuals including athletes Cardiol Rev 7 1999 127 135 (Pubitemid 29226706)
181. A. Tabib, R. Loire, and L. Chalabreysse Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia Circulation 108 2003 3000 3005 (Pubitemid 37553569)
182. S. Sen-Chowdhry, P. Syrris, and S.K. Prasad Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity J Am Coll Cardiol 52 2008 2175 2187
183. S. Sen-Chowdhry, P. Syrris, and D. Ward Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression Circulation 115 2007 1710 1720 (Pubitemid 46648607)
184. F.I. Marcus, W.J. McKenna, and D. Sherrill Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria Circulation 121 13 2010 1533 1541
185. J.A. Towbin Arrhythmogenic right ventricular cardiomyopathy: a paradigm of overlapping disorders Ann Noninvasive Electrocardiol 13 2008 325 326
186. S. Sen-Chowdhry, R.D. Morgan, and J.C. Chambers Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment Annu Rev Med 61 2010 233 253
187. D. Dalal, K. Nasir, and C. Bomma Arrhythmogenic right ventricular dysplasia: a United States experience Circulation 112 2005 3823 3832 (Pubitemid 43739479)
188. S. Peters, M. Trummel, and W. Meyners Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital Int J Cardiol 97 2004 499 501 (Pubitemid 39550701)
189. S. Sen-Chowdhry, P. Syrris, and W.J. McKenna Genetics of right ventricular cardiomyopathy J Cardiovasc Electrophysiol 16 2005 927 935 (Pubitemid 41623790)
190. D. Dalal, C. James, and R. Devanagondi Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy J Am Coll Cardiol 48 2006 1416 1424 (Pubitemid 44436806)
191. M.M. Awad, H. Calkins, and D.P. Judge Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy Nat Clin Pract Cardiovasc Med 5 2008 258 267 (Pubitemid 351593909)
192. M.M. Awad, D. Dalal, and C. Tichnell Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2 Hum Mutat 27 2006 1157
193. G. McKoy, N. Protonotarios, and A. Crosby Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) Lancet 355 2000 2119 2124 (Pubitemid 30364661)
194. E.E. Norgett, S.J. Hatsell, and L. Carvajal-Huerta Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma Hum Mol Genet 9 2000 2761 2766
195. N. Protonotarios, and A. Tsatsopoulou Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy Cardiovasc Pathol 13 2004 185 194 (Pubitemid 38798357)
196. M.A. Simpson, S. Mansour, and D. Ahnood Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair Cardiology 113 2009 28 34
197. T. Xu, Z. Yang, and M. Vatta Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 55 2010 587 597
198. A. Rampazzo, A. Nava, and S. Malacrida Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 71 2002 1200 1206 (Pubitemid 35305239)
199. B. Gerull, A. Heuser, and T. Wichter Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 2004 1162 1164 (Pubitemid 41288964)
200. K. Pilichou, A. Nava, and C. Basso Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 2006 1171 1179
201. P. Syrris, D. Ward, and A. Evans Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 Am J Hum Genet 79 2006 978 984 (Pubitemid 44763413)
202. A. Asimaki, P. Syrris, and T. Wichter A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 81 2007 964 973 (Pubitemid 47580249)
203. M.M. Awad, D. Dalal, and E. Cho DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy Am J Hum Genet 79 2006 136 142 (Pubitemid 43927384)
204. N.D. Merner, K.A. Hodgkinson, and A.F. Haywood Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Am J Hum Genet 82 2008 809 821
205. G. Beffagna, G. Occhi, and A. Nava Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 Cardiovasc Res 65 2005 366 373 (Pubitemid 40082478)
206. N. Tiso, D.A. Stephan, and A. Nava Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) Hum Mol Genet 10 2001 189 194 (Pubitemid 32123976)
207. D. Corrado, and G. Thiene Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies Circulation 113 2006 1634 1637
208. S. Sen-Chowdhry, P. Syrris, and W.J. McKenna Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy J Am Coll Cardiol 50 2007 1813 1821 (Pubitemid 350007965)
209. J.P. van Tintelen, M.M. Entius, and Z.A. Bhuiyan Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy Circulation 113 2006 1650 1658
210. A.H. Christensen, M. Benn, and A. Tybjaerg-Hansen Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patientsdisease-causing or innocent bystanders? Cardiology 115 2010 148 154
211. M.G. Posch, M.J. Posch, and A. Perrot Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy Nat Clin Pract Cardiovasc Med 5 2008 E1
212. M.G. Posch, M.J. Posch, and C. Geier A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy Mol Genet Metab 95 12 2008 74 80
213. B. Bauce, A. Nava, and G. Beffagna Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/ dysplasia Heart Rhythm 7 2010 22 29
214. B. Bauce, C. Basso, and A. Rampazzo Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations Eur Heart J 26 2005 1666 1675 (Pubitemid 41389699)
215. D. Dalal, L.H. Molin, and J. Piccini Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2 Circulation 113 2006 1641 1649
216. S. Sen-Chowdhry, P. Syrris, and A. Pantazis Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy Circ Cardiovasc Genet 3 2010 323 330
217. P. Kirchhof, L. Fabritz, and M. Zwiener Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice Circulation 114 2006 1799 1806 (Pubitemid 44673354)
218. V.V. Michels, P.P. Moll, and F.A. Miller The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy N Engl J Med 326 1992 77 82
219. M.K. Baig, J.H. Goldman, and A.P. Caforio Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease J Am Coll Cardiol 31 1998 195 201 (Pubitemid 28064742)
220. E. Grunig, J.A. Tasman, and H. Kucherer Frequency and phenotypes of familial dilated cardiomyopathy J Am Coll Cardiol 31 1998 186 194 (Pubitemid 28064741)
221. R.E. Hershberger, J. Lindenfeld, and L. Mestroni Genetic evaluation of cardiomyopathya Heart Failure Society of America practice guideline J Card Fail 15 2009 83 97
222. D.P. Judge, and N.M. Johnson Genetic evaluation of familial cardiomyopathy J Cardiovasc Trans Res 1 2008 144 154
223. J.L. Jefferies, and J.A. Towbin Dilated cardiomyopathy Lancet 375 2010 752 762
224. R.E. Hershberger, A. Morales, and J.D. Siegfried Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Genet Med 12 2010 655 667
225. K. Spaendonck-Zwarts, L. van Hessem, and J.D. Jongbloed Desmin-related myopathy: a review and meta-analysis Clin Genet 2010 Jul 21[Epub ahead of print]
226. B.J. Maron, J.A. Towbin, and G. Thiene Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention Circulation 113 2006 1807 1816 (Pubitemid 43958474)
227. R. Engberding, T.M. Yelbuz, and G. Breithardt Isolated noncompaction of the left ventricular myocardium: a review of the literature two decades after the initial case description Clin Res Cardiol 96 2007 481 488 (Pubitemid 47012555)
228. R.H. Pignatelli, C.J. McMahon, and W.J. Dreyer Clinical characterization of left ventricular noncompaction in children A relatively common form of cardiomyopathy Circulation 108 2003 2672 2678 (Pubitemid 37466810)
229. J.A. Towbin, and N.E. Bowles The failing heart Nature 415 2002 227 233 (Pubitemid 34059529)
230. F. Scaglia, J.A. Towbin, and W.J. Craigen Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics 114 2004 925 931 (Pubitemid 41529754)
231. J.A. Towbin Left ventricular noncompaction: a new form of heart failure Heart Fail Clin 6 2010 453 469
232. F. Ichida Left ventricular noncompaction Circ J 73 2009 19 26
233. S. Klaassen, S. Probst, and E. Oechslin Mutations in sarcomere protein genes in left ventricular noncompaction Circulation 117 2008 2893 2901 (Pubitemid 351787074)
234. M. Vatta, B. Mohapatra, and S. Jimenez Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction J Am Coll Cardiol 42 2003 2014 2027 (Pubitemid 37485581)
235. F. Ichida, S. Tsubata, and K.R. Bowles Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome Circulation 103 2001 1256 1263 (Pubitemid 32221349)
236. L. Shan, N. Makita, and Y. Xing SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia Mol Genet Metab 93 2008 468 474 (Pubitemid 351381465)
237. Y.M. Hoedemaekers, K. Caliskan, and M. Michels The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy Circ Cardiovasc Genet 3 2010 232 239
238. S.B. Bleyl, B.R. Mumford, and V. Thompson Neonatal lethal noncompaction of the ventricular myocardium is allelic with Barth syndrome Am J Hum Genet 61 1997 868 872 (Pubitemid 27418461)
239. J. Finsterer, and C. Stöllberger Primary myopathies and the heart Scand Cardiovasc J 42 2008 9 24 (Pubitemid 351462230)
240. S. Tang, A. Batra, and Y. Zhang Left ventricular noncompaction is associated with mutations in the mitochondrial genome Mitochondrion 10 2010 350 357
241. A. Jacquier, F. Thuny, and B. Jop Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction Eur Heart J 31 2010 1098 1104
242. B.W. Eidem Noninvasive evaluation of left ventricular noncompaction: what's new in 2009? Pediatr Cardiol 30 2009 682 689
243. S.S. Kushwaha, J.T. Fallon, and V. Fuster Restrictive cardiomyopathy N Engl J Med 336 1997 267 276 (Pubitemid 27044630)
244. B.J. Maron, J.A. Towbin, and G. Thiene Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention Circulation 113 2006 1807 1816 (Pubitemid 43958474)
245. S. Sen-Chowdhry, P. Syrris, and W.J. McKenna Genetics of restrictive cardiomyopathy Heart Fail Clin 6 2010 179 186
246. C. Stollberger, and J. Finsterer Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy Clin Cardiol 30 2007 375 380 (Pubitemid 47312887)
247. C. Meredith, R. Herrmann, and C. Parry Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1) Am J Hum Genet 75 2004 703 708 (Pubitemid 39244785)
248. J.P. Kaski, P. Syrris, and M. Burch Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes Heart 94 2008 1478 1484
249. T. Kubo, J.R. Gimeno, and A. Bahl Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype J Am Coll Cardiol 49 2007 2419 2426 (Pubitemid 46962256)
250. R.H. Falk Diagnosis and management of the cardiac amyloidoses Circulation 112 2005 2047 2060 (Pubitemid 41377426)
251. D.R. Jacobson, R.D. Pastore, and R. Yaghoubian Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans N Engl J Med 336 7 1997 466 473 (Pubitemid 27074357)
252. M. Tartaglia, and B.D. Gelb Noonan syndrome and related disorders: genetics and pathogenesis Annu Rev Genomics Hum Genet 6 2005 45 68 (Pubitemid 41397075)
253. M. Tartaglia, E.L. Mehler, and R. Goldberg Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Nat Genet 29 2001 465 468 (Pubitemid 34326699)
254. M. Tartaglia, K. Kalidas, and A. Shaw PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity Am J Hum Genet 70 2002 1555 1563 (Pubitemid 34533902)
255. E.A. Croonen, I. van der Burgt, and L. Kapusta Electrocardiography in Noonan syndrome PTPN11 gene mutationphenotype characterization Am J Med Genet A 146 2008 350 353 (Pubitemid 351212836)
256. B. Pandit, A. Sarkozy, and L.A. Pennacchio Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy Nat Genet 39 2007 1007 1012 (Pubitemid 47185177)
257. C. van der Werf, N. Hofman, and H.L. Tan Diagnostic yield in sudden unexplained death and aborted vcardiac arrest in the young: the experience of a tertiary referral center in The Netherlands Heart Rhythm 7 2010 1383 1389
258. F. Folke, G.H. Gislason, and F.K. Lippert Differences between out-of-hospital cardiac arrest in residential and public locations and implications for public-access defibrillation Circulation 122 2010 623 630
259. F.I. Marcus, W.J. McKenna, and D. Sherrill Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria Circulation 121 2010 1533 1541
260. S.C. Vasaiwala, C. Finn, and J. Delpriore Prospective study of cardiac sarcoid mimicking arrhythmogenic right ventricular dysplasia J Cardiovasc Electrophysiol 20 2009 479 483
261. A.D. Krahn, J.S. Healey, and V. Chauhan Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Circulation 120 2009 278 285
262. M. Hassaguerre, N. Derval, and F. Sacher Sudden cardiac arrest associated with early repolarization N Engl J Med 358 2008 2016 2023 (Pubitemid 351681636)
263. M. Alders, T.T. Koopmann, and I. Christiaans Haplotype Sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation Am J Hum Genet 84 2009 468 476
264. M.J. Ackerman, D.J. Tester, and D.J. Driscoll Molecular autopsy of sudden unexplained death in the young Am J Forensic Med Pathol 22 2001 105 111 (Pubitemid 32494104)
265. A. Doolan, N. Langlois, and C. Semsarian Causes of sudden cardiac death in young Australians Med J Aust 180 2004 110 112 (Pubitemid 38173103)
266. M.J. Ackerman, B.L. Siu, and W.Q. Sturner Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome Jama 286 2001 2264 2269 (Pubitemid 33063149)
267. D.W. Van Norstrand, C.R. Valdivia, and D.J. Tester Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1L) mutations in sudden infant death syndrome Circulation 116 2007 2253 2259 (Pubitemid 350100330)
268. D.W. Wang, R.R. Desai, and L. Crotti Cardiac sodium channel dysfunction in sudden infant death syndrome Circulation 115 2007 368 376 (Pubitemid 46148511)
269. M. Arnestad, L. Crotti, and T.O. Rognum Prevalence of long-QT syndrome gene variants in sudden infant death syndrome Circulation 115 2007 361 367 (Pubitemid 46148510)
270. D.J. Tester, D.B. Spoon, and H.H. Valdivia Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases Mayo Clin Proc 79 2004 1380 1384 (Pubitemid 39453301)
271. D.J. Tester, and M.J. Ackerman Postmortem long QT syndrome genetic testing for sudden unexplained death in the young J Am Coll Cardiol 49 2007 240 246 (Pubitemid 46054388)
272. P.J. Schwartz, M. Stramba-Badiale, and A. Segantini Prolongation of the QT interval and the sudden infant death syndrome N Engl J Med 338 1998 1709 1714 (Pubitemid 28268586)
273. P.J. Schwartz, S.G. Priori, and R. Dumaine A molecular link between the sudden infant death syndrome and the long-QT syndrome N Engl J Med 343 2000 262 267 (Pubitemid 30490394)
274. H.L. Tan, N. Hofman, and I.M. van Langen Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives Circulation 112 2005 207 213 (Pubitemid 40982303)
275. E. Behr, D.A. Wood, and M. Wright Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome Lancet 362 2003 1457 1459 (Pubitemid 37352884)
276. J. Ingles, and C. Semsarian Sudden cardiac death in the young: a clinical genetic approach Intern Med J 37 2007 32 37 (Pubitemid 44924404)
277. E. Carturan, D.J. Tester, and B.C. Brost Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue Am J Clin Pathol 129 2008 391 397 (Pubitemid 352029291)
278. J.B. Beckwith Defining the sudden infant death syndrome Arch Pediatr Adolesc Med 157 2003 286 290 (Pubitemid 36343384)