Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia

Heart

Volumn 97, Issue 7, 2011, Pages 530-539

  Corrado, Domenico ^a   Basso, Cristina ^a   Pilichou, Kalliopi ^a   Thiene, Gaetano ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS; AUTOPSY; CELL ADHESION; CELLULAR DISTRIBUTION; DESMOSOME; EARLY DIAGNOSIS; GENE LOCUS; GENETIC SCREENING; HEART MUSCLE FIBROSIS; HEART RIGHT VENTRICLE DYSPLASIA; HEPATITIS C VIRUS; HUMAN; HUMAN PARVOVIRUS B19; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SIGNALING; NONHUMAN; PATHOGENESIS; PHENOTYPE; PREVALENCE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN LOCALIZATION; REVIEW; SUDDEN DEATH;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOSOMES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; PEDIGREE; PROGNOSIS;

EID: 79952537763     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2010.193276     Document Type: Review

References (74)

1. Thiene G, Nava A, Corrado D, et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988;318:129-33. (Pubitemid 18035134)
2. Basso C, Thiene G, Corrado D, et al. Arrhythmogenic right ventricular cardiomyopathy: dysplasia, dystrophy or myocarditis? Circulation 1996;94:983-91. (Pubitemid 26292851)
3. Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 1997;30:1512-20. (Pubitemid 27486470)
4. Corrado D, Basso C, Thiene G. Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart 2000;83:588-95. (Pubitemid 30316741)
5. Basso C, Corrado D, Marcus FI, et al. Arrhythmogenic right ventricular cardiomyopathy. Lancet 2009;373:1289-300.
6. Marcus F, Fontaine G, Guiraudon G, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982;65:384-98. (Pubitemid 12219036)
7. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 1996;93:841-2. (Pubitemid 26074816)
8. Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies. Circulation 2006;113:1807-16.
9. Corrado D, Basso C, Schiavon M, et al. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998;339:364-9. (Pubitemid 28363798)
10. Corrado D, Basso C, Pavei A, et al. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006;296:1593-601. (Pubitemid 44515020)
11. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 1994;71:215-18. (Pubitemid 24113523)
12. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Eur Heart J 2010;31:806-14.
13. Corrado D, Basso C, Thiene G. Arrhythmogenic right ventricular cardiomyopathy: an update. Heart 2009;95:766-73.
14. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-24. (Pubitemid 30364661)
15. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol 2005;16:927-35. (Pubitemid 41623790)
16. Corrado D, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 2006;113:1634-7.
17. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007;50:1813-21. (Pubitemid 350007965)
18. Awad MM, Calkins H, Judge DP; Medscape. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med 2008;5:258-67. (Pubitemid 351593909)
19. Asimaki A, Tandri H, Huang H, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009;360:1075-84.
20. Marcus FI, Zareba W, Calkins H, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Heart Rhythm 2009;6:984-92.
21. Bauce B, Frigo G, Marcus FI, et al. Comparison of clinical features of arrhythmogenic right ventricular cardiomyopathy in men versus women. Am J Cardiol 2008;102:1252-7.
22. Saffitz JE, Asimaki A, Huang H. Arrhythmogenic right ventricular cardiomyopathy: new insights into disease mechanisms and diagnosis. J Investig Med 2009;57:861-4.
23. Nava A, Thiene G, Canciani B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 1988;12:1222-8.
24. Rampazzo A, Nava A, Danieli GA, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-62. (Pubitemid 24189967)
25. Coonar AS, Protonotarios N, Tsatsopoulou A, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998;97:2049-58. (Pubitemid 28243668)
26. Huber O. Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci 2003;60:1872-90. (Pubitemid 37222584)
27. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000;9:2761-6.
28. Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-6. (Pubitemid 35305239)
29. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004;36:1162-4. (Pubitemid 41288964)
30. Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006;113:1641-9.
31. Van Tintelen JP, Entius MM, Bhruiyan ZA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006;113:1650-8.
32. Pilichou K, Nava A, Basso C, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:1171-9.
33. Syrris P, Ward D, Evans A, et al. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006;79:978-84. (Pubitemid 44763413)
34. Thiene G, Corrado D, Basso C. Revisiting definition and classification of cardiomyopathies in the era of molecular medicine. Eur Heart J 2008;29:144-6.
35. Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189-94. (Pubitemid 32123976)
36. Beffagna G, Occhi G, Nava A, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 2005;65:366-73. (Pubitemid 40082478)
37. Merner ND, Hodgkinson KA, Haywood AF, et al. 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 2008;82:809-21.
38. Yang Z, Bowles NE, Scherer SE, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res 2006;99:646-55. (Pubitemid 44401456)
39. Basso C, Czarnowska E, Della Barbera M, et al. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. Eur Heart J 2006;27:1847-54. (Pubitemid 44297392)
40. Garcia-Gras E, Lombardi R, Giocondo MJ, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006;116:2012-21. (Pubitemid 44033325)
41. Corrado D, Leoni L, Link MS, et al. Implantable cardioverter- defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108:3084-91. (Pubitemid 38031796)
42. Saffitz JE. Dependence of electrical coupling on mechanical coupling in cardiac myocytes: insights gained from cardiomyopathies caused by defects in cell-cell connections. Ann NY Acad Sci 2005;1047:336-44. (Pubitemid 41123852)
43. Kaplan SR, Gard JJ, Protonotarios N, et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 2004;1:3-11. (Pubitemid 38647241)
44. Kaplan SR, Gard JJ, Carvajal-Huerta L, et al. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 2004;13:26-32. (Pubitemid 38169463)
45. Tandri H, Asimaki A, Dalal D, et al. Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation. J Cardiovasc Electrophysiol 2008;19:1212-14.
46. Fidler LM, Wilson GJ, Liu F, et al. Abnormal connexion-43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med 2009;13:4219-28.
47. Kirchhof P, Fabritz L, Zwiener M, et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 2006;114:1799-806. (Pubitemid 44673354)
48. Pilichou K, Remme CA, Basso C, et al. Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J Exp Med 2009;206:1787-802.
49. Bowles NE, Ni J, Marcus F, et al. The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2002;39:892-5. (Pubitemid 34185340)
50. Calabrese F, Basso C, Carturan E, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? Cardiovasc Pathol 2006;15:11-17.
51. Fox PR, Maron BJ, Basso C, et al. Spontaneously occurring arrhythmogenic right ventricular cardiomyopathy in the domestic cat: a new animal model similar to the human disease. Circulation 2000;102:1863-70.
52. Sen-Chowdhry S, Syrris P, Ward D, et al. 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. (Pubitemid 46648607)
53. Sen-Chowdhry S, Syrris P, Prasad SK, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol 2008;52:2175-87.
54. Tandri H, Saranathan M, Rodriguez ER, et al. Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed-enhancement magnetic resonance imaging. J Am Coll Cardiol 2005;45:98-103. (Pubitemid 40052034)
55. Sen-Chowdhry S, Prasad SK, Syrris P, et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol 2006;48:2132-40. (Pubitemid 44738443)
56. Bauce B, Basso C, Rampazzo A, et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005;26:1666-75. (Pubitemid 41389699)
57. Norman M, Simpson M, Mogensen J, et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005;112:636-42. (Pubitemid 41099041)
58. Bauce B, Nava A, Beffagna G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Heart Rhythm 2010;7:22-9.
59. Xu T, Yang Z, Vatta M, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2010;55:587-9.
60. Christensen AH, Benn M, Tybjaerg-Hansen A, et al. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients: disease-causing or innocent bystanders? Cardiology 2010;115:148-54.
61. Posch MG, Posch MJ, Perrot A, et al. Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med 2008;5:E1.
62. Behr ER, Dalageorgou C, Christiansen M, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart 2008;29:1670-80. (Pubitemid 351957547)
63. Tan HL, Hofman N, van Langen IM, et al. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005;112:207-13. (Pubitemid 40982303)
64. Nava A, Bauce B, Basso C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000;36:2226-33.
65. Asimaki A, Tandri H, Mackey-Bojack S, et al. Desmosomal abnormalities in sarcoidosis and giant cell myocarditis - implications for disease pathogenesis in arrhythmogenic right ventricular cardiomyopathy. Heart Rhythm 2010;7:S407.
66. Protonotarios N, Tsatsopoulou A, Anastasakis A, et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001;38:1477-84. (Pubitemid 33033029)
67. Wichter T, Paul M, Wollmann C, et al. Implantable cardioverter/ defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients. Circulation 2004;109:1503-8. (Pubitemid 38420178)
68. Roguin A, Bomma CS, Nasir K, et al. Implantable cardioverter defibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2004;43:1843-52. (Pubitemid 38622525)
69. Corrado D, Calkins H, Link MS, et al. Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation 2010;121:1144-52.
70. Corrado D, Thiene G, Nava A, et al. Sudden death in young competitive athletes: clinico-pathologic correlations in 22 cases. Am J Med 1990;89:588-96. (Pubitemid 20384315)
71. Corrado D, Basso C, Rizzoli G, et al. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol 2003;42:1959-63.
72. Marcus F, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Milan: Springer, 2007.
73. Pelliccia A, Fagard R, Bjornstad HH, et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Eur Heart J 2005;26:1422-45.
74. Maron BJ, Chaitman BR, Ackerman MJ, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004;109:2807-16. (Pubitemid 38744555)