Update in arrhythmogenic right ventricular cardiomyopathy: Genetic, clinical presentation and risk stratification;Actualización en miocardiopatía arritmogénica del ventrículo derecho: Genética, diagnóstico, manifestaciones clínicas y estratificación de riesgo

Revista Espanola de Cardiologia

Volumn 57, Issue 8, 2004, Pages 757-767

  Tomé Esteban, María T ^a   García Pinilla, José M ^b   McKenna, William J ^a  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA VICTORIA   (Spain)

Author keywords

Arrhythmia; Cardiomyopathy; Right ventricle; Sudden death

Indexed keywords

AMIODARONE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CELL ADHESION MOLECULE; DESMOPLAKIN; PLAKOGLOBIN; SOTALOL;

ADIPOSE TISSUE; CATHETER ABLATION; CELL ADHESION; CELL DEATH; CELL JUNCTION; CLINICAL FEATURE; DEFIBRILLATOR; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FAMILY STUDY; FATALITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEART MUSCLE; HEART MUSCLE BIOPSY; HEART MUSCLE FIBROSIS; HEART RIGHT VENTRICLE; HEART RIGHT VENTRICLE DYSPLASIA; HEART TRANSPLANTATION; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICULOGRAPHY; HOLTER MONITORING; HUMAN; MYOCARDIAL DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MEDICINE; PATHOGENESIS; PHENOTYPIC VARIATION; PHYSICIAN; PROGNOSIS; REGISTER; REVIEW; RISK ASSESSMENT; SUDDEN DEATH; SYMPTOMATOLOGY; THEORY; TREATMENT PLANNING;

EID: 4744354627     PISSN: 03008932     EISSN: None     Source Type: Journal    
DOI: 10.1157/13064828     Document Type: Review

References (85)

1. Dalla Volta S, Battaglia G, Zerbini E. Auricularization of right ventricular pressure curve. Am Heart J 1961;61:25-33.
2. Fontaine G, Guiraudon G, Frank R. Stimulation studies epicardial mapping in VT: Study of mechanisms and selection for surgery. En: Hulbertus HE, editor. Reentrant arrhythmias. Lancaster: MTP Publishers, 1977; p. 334-50.
3. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J, 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.
4. Brugada J, Brugada P, Brugada R. El síndrome de Brugada y las miocardiopatías, derechas como causa de muerte súbita. Diferencias y similitudes. Rev Esp Cardiol 2000;53:275-85.
5. Brugada J, Mont L, Brugada R. Displasia arritmogénica del ventrículo derecho. Rev Esp Cardiol 1997;50:541-7.
6. Burke AP, Farb A, Tashko G, Virmani R. Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases? Circulation 1998;97:1571-80.
7. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994;71:215-8.
8. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986;56:321-6.
9. 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;355:2119-24.
10. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003;42:319-27.
11. Ahmad F. The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy. Clin Invest Med 2003;26:167-78.
12. Runge MS, Stouffer GA, Sheahan RG, Yamamoto S, Tsyplenkova VG, James TN. Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia. Am J Med Sci 2000;320:310-9.
13. Díez J. Apoptosis en las enfermedades cardiovasculares. Rev Esp Cardiol 2000;53:267-74.
14. Nagata M, Hiroe M, Ishiyama S, Nishikawa T, Sakomura Y, Kasanuki H, et al. Apoptotic cell death in arrhythmogenic right ventricular cardiomyopathy: a comparative study with idiopathic sustained ventricular tachycardia. Jpn Heart J 2000;41:733-41.
15. Valente M, Calabrese F, Thiene G, Angelini A, Basso C, Nava A, et al. In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol 1998;152:479-84.
16. Mestroni L, Milasin J, Vatta M, Pinamonti B, Sinagra G, Rocco C, et al. Genetic factors in dilated cardiomyopathy. Arch Mal Coeur Vaiss 1996;89:15-20.
17. Ruiz-Lozano P, Nakamura T, Chien KR. Genes del desarrollo y enfermedad cardíaca. Rev Esp Cardiol 2001;54:1439-45.
18. Hertig CM, Butz S, Koch S, Eppenberger-Eberhardt M, Kemler R, Eppenberger HM. N-cadherin in adult rat cardiomyocytes in culture. II. Spatio-temporal appearance of proteins involved in cell-cell contact and communication. Formation of two distinct N-cadherin/catenin complexes. J Cell Sci 1996;109:11-20.
19. Haftek M, Hansen MU, Kaiser HW, Kreysel HW, Schmitt D. Interkeratinocyte adherens junctions: immunocytochemical visualization of cell-cell junctional structures, distinct from desmosomes, in human epidermis. J Invest Dermatol 1996;106:498-504.
20. Domínguez J, De Castro MD, Franco D, Aránega A. Regulación de la expresión génica en el miocardio durante el desarrollo cardíaco. Rev Esp Cardiol 2002;55:167-84.
21. Hatzfeld M. The armadillo family of structural proteins. Int Rev Cytol 1999;186:179-224.
22. Hakimelahi S, Parker HR, Gilchrist AJ, Barry M, Li Z, Bleackley RC, et al. Plakoglobin regulates the expression of the anti-apoptotic protein BCL-2. J Biol Chem 2000;275:10905-11.
23. Leung CL, Green KJ, Liem RK. Plakins: a family of versatile cytolinker proteins. Trends Cell Biol 2002;12:37-45.
24. Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, 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.
25. 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;71:1200-6.
26. 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;9:2761-6.
27. Galve Basilio E, Manterola FA, Ballester Rodés M, Castro Beiras A, Fernández de Soria Pantoja R, Penas Lado M, et al, Guías de práctica clínica de la Sociedad Españ ola de Cardiología en miocardiopatías y miocarditis. Rev Esp Cardiol 2000;53:360-93.
28. Bauce B, Nava A, Rampazzo A, Daliento L, Muriago M, Basso C, et al. Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43. Am J Cardiol 2000;85:573-9.
29. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, 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.
30. Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 1995;4:2151-4.
31. Marks AR, Priori S, Memmi M, Kontula K, Laitinen PJ. Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. J Cell Physiol 2002;190:1-6.
32. 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;103:485-90.
33. Franzini-Armstrong C, Protasi F. Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions. Physioi Rev 1997;77:699-729.
34. Stokes DL, Wagenknecht T. Calcium transport across the sarcoplasmic reticulum: structure and function of Ca2+-ATPase and the ryanodine receptor. Eur J Biochem 2000;267:5274-9.
35. Tunwell RE, Wickenden C, Bertrand BM, Shevchenko VI, Walsh MB, Allen PD, et al. The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis. Biochem J 1996;318:477-87.
36. Yamamoto T, El Hayek R, Ikemoto N. Postulated role of interdomain interaction within the ryanodine receptor in Ca(2+) channel regulation. J Biol Chem 2000;275:11618-25.
37. McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410-7.
38. Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, et al. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell 2000;101:365-76.
39. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N. Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. Am J Med 1990;89:588-96.
40. Corrado D, Basso C, Schiavon M, Thiene G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998;339:364-9.
41. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J Cardiol 1999;71:243-50.
42. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA 1996;276: 199-204.
43. Bastien O, Guerin JM, Artru F, Lehot JJ. Arrhythmogenic right ventricular dysplasia: an underestimated cause of perioperative death? J Cardiothorac Vasc Anesth 2002;16:357-8.
44. Houfani B, Meyer P, Merckx J, Roure P, Padovani JP, Fontaine G, et al. Postoperative sudden death in two adolescents with myelomeningocele and unrecognized arrhythmogenic right ventricular dysplasia. Anesthesiology 2001;95:257-9.
45. Tabib A, Loire R, Miras A, Thivolet-Bejui F, Timour Q, Bui-Xuan B, et al. Unsuspected cardiac lesions associated with sudden unexpected perioperative death. Eur J Anaesthesiol 2000;17:230-5.
46. Aguilera B, Suárez Mier MP, Morentin B. Miocardiopatía arritmogénica como causa de muerte súbita en España. Presentación de 21 casos. Rev Esp Cardiol 1999;52:656-62.
47. Wichter T, Schafers M, Rhodes CG, Borggrefe M, Lerch H, Lammertsma AA, et al. Abnormalities of cardiac sympathetic innervation in arrhythmogenic right ventricular cardiomyopathy: quantitative assessment of presynaptic norepinephrine reuptake and postsynaptic beta-adrenergic receptor density with positron emission tomography. Circulation 2000;101:1552-8.
48. Furlanello F, Bertoldi A, Dallago M, Furlanello C, Fernando F, Inama G, et al. Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia. Pacing Clin Electrophysiol 1998;21:331-5.
49. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. European Society of Cardiology and the Scientific Council on Cardiomyopathies of the World Heart Federation. J Cardiovasc Electrophysiol 2000;11:827-32.
50. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 2000;101:101-6.
51. Okabe M, Fukuda K, Nakashima Y, Arakawa K, Kikuchi M. An isolated left ventricular lesion associated with left ventricular tachycardia-arrhythmogenic «left» ventricular dysplasia? Jpn Circ J 1995;59:49-54.
52. Shrapnel M, Gilbert JD, Byard RW. Arrhythmogenic left ventricular dysplasia' and sudden death. Med Sci Law 2001;41:159-62.
53. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-50.
54. Marcus F, Towbin JA, Zareba W, Moss A, Calkins H, Brown M, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol. Circulation 2003;107:2975-8.
55. Jaoude SA, Leclercq JF, Coumel P. Progressive ECG changes in arrhythmogenic right ventricular disease. Evidence for an evolving disease. Eur Heart J 1996;17:1717-22.
56. Metzger JT, De Chillou C, Cheriex E, Rodriguez LM, Smeets JL, Wellens HJ. Value of the 12-lead electrocardiogram in arrhythmogenic right ventricular dysplasia, and absence of correlation with echocardiographic findings. Am J Cardiol 1993;72:964-7.
57. Fontaine G, Fornes P, Chemla D. Arrhythmogenic right ventricular cardiomyopathy with an initial manifestation of severe left ventricular impairment and normal contraction of the right ventricle. Jpn Circ J 2000;64:738-9.
58. Fontaine G, Umemura J, Di Donna P, Tsezana R, Cannat JJ, Frank R. Duration of QRS complexes in arrhythmogenic right ventricular dysplasia. A new non-invasive diagnostic marker. Ann Cardiol Angeiol (Paris) 1993;42:399-405.
59. Marcus FI, Fontaine G. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review. Pacing Clin Electrophysiol 1995;18:1298-314.
60. Marcus FI. Update of arrhythmogenic right ventricular dysplasia. Card Electrophysiol Rev 2002;6:54-6.
61. Corrado D, Basso C, Thiene G. Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart 2000;83:588-95.
62. Turrini P, Angelini A, Thiene G, Buja G, Daliento L, Rizzoli G, et al. Late potentials and ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1999;83: 1214-9.
63. Kinoshita O, Fontaine G, Rosas F, Elias J, Iwa T, Tonet J, et al. Time- and frequency-domain analyses of the signal-averaged ECG in patients with arrhythmogenic right ventricular dysplasia. Circulation 1995;91:715-21.
64. Kisslo J. Two-dimensional echocardiography in arrhythmogenic right ventricular dysplasia. Eur Heart J 1989;10(Suppl D):22-6.
65. Alizad A, Seward JB. Echocardiographic features of genetic diseases: part 1. Cardiomyopathy. J Am Soc Echocardiogr 2000;13: 73-86.
66. Fontaine G, Fontaliran F, Hebert JL, Chemla D, Zenati O, Lecarpentier Y, et al. Arrhythmogenic right ventricular dysplasia. Annu Rev Med 1999;50:17-35.
67. Lindstrom L, Wilkenshoff UM, Larsson H, Wranne B. Echocardiographic assessment of arrhythmogenic right ventricular cardiomyopathy. Heart 2001;86:31-8.
68. Blake LM, Scheinman MM, Higgins CB. MR features of arrhythmogenic right ventricular dysplasia. AJR Am J Roentgenol 1994;162:809-12.
69. Wichter T, Lentschig MG, Reimer P. Arrhythmogenic right ventricular cardiomyoapthy/dysplasia. En: Nava A, Rossi L, Thiene G, editors. Magnetic Resonance Imaging. Amsterdam: Elsevier Science BV, 1997; p. 269-184.
70. 123I-meta-iodobenzylguanidine scintigraphy. Circulation 1994;89:667-83.
71. Cruz FE, Havenith M, Brugada P, Atie J, Cheriex EC, Smeets JL, et al. Pathologic findings after sudden death in arrhythmogenic right ventricular dysplasia. Am J Cardiovasc Pathol 1990;3:329-32.
72. Nasir K, Bomma C, Khan FA, Tandri H, Tichnell C, James C, et al. Utility of a combined signal-averaged electrocardiogram and QT dispersion algorithm in identifying arrhythmogenic right ventricular dysplasia in patients with tachycardia of right ventricular origin. Am J Cardiol 2003;92:105-9.
73. Roberts R, Schwartz K. Myocardial diseases. Circulation 2000;102:34-9.
74. Aouate P, Fontaliran F, Fontaine G, Frank R, Benassar A, Lascault G, et al. Holter and sudden death: value in a case of arrhythmogenic right ventricular dysplasia. Arch Mal Coeur Vaiss 1993;86:363-7.
75. Leclercq JF, Coumel P. Characteristics, prognosis and treatment of the ventricular arrhythmias of right ventricular dysplasia. Eur Heart J 1989;10(Suppl D):61-7.
76. Daliento L, Rizzoli G, Thiene G, Nava A, Rinuncini M, Chioin R, et al. Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 1990;66:741-5.
77. Wichter T, Borggrefe M, Haverkamp W, Chen X, Breithardt G. Efficacy of antiarrhythmic drugs in patients with arrhythmogenic right ventricular disease. Results in patients with inducible and noninducible ventricular tachycardia. Circulation 1992;86:29-37.
78. Corrado D, Leoni L, Link MS, Della Bella P, Gaita F, Curnis A, et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108:3084-91.
79. Marcus FI, Fontaine GH, Frank R, Gallagher JJ, Reiter MJ. Long-term follow-up in patients with arrhythmogenic right ventricular disease. Eur Heart J 1989;10(Suppl D):68-73.
80. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001;50: 399-408.
81. Nava A, Canciani B, Buja G, Martini B, Daliento L, Scognamiglio R, et al. Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: relationship with right ventricular volumes. J Electrocardiol 1988;21:239-45.
82. Wichter T, Paul M, Wollmann C, Acil T, Gerdes P, Ashraf O, 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.
83. De Groot NM, Schalij MJ, Van der Wall EE. Area ablation of ventricular tachycardia in a patient with arrhythmogenic right ventricular cardiomyopathy. Heart 2003;89:703.
84. Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P, et al. Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J 2001;22:1374-450.
85. Tabib A, Loire R, Chalabreysse L, Meyronnet D, Miras A, Malicier D, et al. 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 2003;108:3000-5.