Genetics of right ventricular cardiomyopathy

Journal of Cardiovascular Electrophysiology

Volumn 16, Issue 8, 2005, Pages 927-935

  Sen Chowdhry, Srijita ^a   Syrris, Petros ^a   McKenna, William J ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

Arrhythmia; Cardiomyopathy; Cell adhesion molecules; Genetics; Sudden death

Indexed keywords

DESMOPLAKIN; MEMBRANE PROTEIN; PLAKOGLOBIN; PROTEIN PLAKOPHILIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; CELL ADHESION; CELL LOSS; CONGESTIVE CARDIOMYOPATHY; DESMOSOME; DISEASE ASSOCIATION; GAP JUNCTION; GENE MUTATION; GENETIC ASSOCIATION; HEART ARRHYTHMIA; HEART FAILURE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MUSCLE CELL; MYOCARDITIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SHEAR STRESS; SUDDEN DEATH;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOSOMES; HUMANS; INTERCELLULAR JUNCTIONS; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA3;

EID: 27744570444     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2005.40842.x     Document Type: Review

References (74)

1. Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F: Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol 1997;30:1512-1520.
2. Corrado D, Fontaine G, Marcus FI, McKenna WJ, Nava A, Thiene G, Wichter T: 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:E101-E106.
3. Nemec J, Edwards BS, Osborn MJ, Edwards WD: Arrhythmogenic right ventricular dysplasia masquerading as dilated cardiomyopathy. Am J Cardiol 1999;84:237-239, A9.
4. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G: Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000;36:2226-2233.
5. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ: Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-1450.
6. De Pasquale CG, Heddle WF: Left sided arrhythmogenic ventricular dysplasia in siblings. Heart 2001;86:128-130.
7. Michalodimitrakis M, Papadomanolakis A, Stiakakis J, Kanaki K: Left side right ventricular cardiomyopathy. Med Sci Law 2002;42:313-317.
8. Fontaliran F, Fontaine G, Fillette F, Aouate P, Chomette G, Grosgogeat Y: Nosologic frontiers of arrhythmogenic dysplasia. Quantitative variations of normal adipose tissue of the right heart ventricle. Arch Mal Coeur Vaiss 1991;84:33-38.
9. Shirani J, Berezowski K, Roberts WC: Quantitative measurement of normal and excessive (coradiposum) subepicardial adipose tissue, its clinical significance, and its effect on electrocardiographic QRS voltage. Am J Cardiol 1995;76:414-418.
10. 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;97:1571-1580.
11. Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P, Camm AJ, Cappato R, Cobbe SM, Di Mario C, Maron BJ, McKenna WJ, Pedersen AK, Ravens U, Schwartz PJ, Trusz-Gluza M, Vardas P, Wellens HJ, Zipes DP: Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J 2001;22:1374-1450. No abstract available.
12. Erratum in: Eur Heart J 2002;23(3):257.
13. Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998;97:2049-2058.
14. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ: Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-2124.
15. Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P: Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001;38:1477-1484.
16. Rao BH, Reddy IS, Chandra KS: Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair. Indian Heart J 1996;48:161-162.
17. Carvajal-Huerta L: Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998;39:418-421.
18. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP: Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000;9:2761-2766.
19. 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;42:319-327.
20. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA: Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-1206.
21. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004;36:1162-1164.
22. Sohl G, Willecke K: Gap junctions and the connexin protein family. Cardiovasc Res 2004;62:228-232.
23. Martin PE, Evans WH: Incorporation of connexins into plasma membranes and gap junctions. Cardiovasc Res 2004;62:378-387.
24. Perriard JC, Hirschy A, Ehler E: Dilated cardiomyopathy: A disease of the intercalated disc? Trends Cardiovasc Med 2003;13:30-38.
25. Kartenbeck J, Franke WW, Moser JG, Stoffels U: Specific attachment of desmin filaments to desmosomal plaques in cardiac myocytes. EMBO J 1983;2:735-742.
26. Getsios S, Huen AC, Green KJ: Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 2004;5:271-281.
27. Huber O: Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci 2003;60:1872-1890.
28. Andra K, Lassmann H, Bittner R, Shorny S, Fassler R, Propst F, Wiche G: Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev 1997;11:3143-3156.
29. Martini B, Basso C, Thiene G: Sudden death in mitral valve prolapse with Holter monitoring-documented ventricular fibrillation: Evidence of coexisting arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol 1995;49:274-278.
30. Corrado D, Basso C, Nava A, Rossi L, Thiene G: Sudden death in young people with apparently isolated mitral valve prolapse. G Ital Cardiol 1997;27:1097-1105.
31. Merten M, Meinertz T, Willems S, Heinemann A: Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement and aortic dissection. Pacing Clin Electrophysiol 2004;27:408-411.
32. Smith M, Kickuk MR, Ratliff NB: Clinical and pathologic study of two siblings with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 1999;8:273-278.
33. Morimoto S, Sekiguchi M, Okada R, Kasajima T, Hiramitsu S, Yamada K, Mizuno Y: Two autopsied cases of arrhythmogenic right ventricular dysplasia. J Cardiol 1990;20:1025-1036.
34. Fontaine G, Fontaliran F, Frank R: Arrhythmogenic right ventricular cardiomyopathies: Clinical forms and main differential diagnoses. Circulation 1998;97:1532-1535.
35. Frances R, Rodriguez Benitez AM, Cohen DR: Arrhythmogenic right ventricular dysplasia and anterior polar cataract. Am J Med Genet 1997;73:125-126.
36. Hwang KH, Lee EH, Jho EH, Kim JH, Lee do H, Chung SK, Kim EK, Joo CK: Accumulation and aberrant modifications of alpha-crystallins in anterior polar cataracts. Yonsei Med J 2004;45:73-80.
37. Towbin JA, Bowles NE: The failing heart. Nature 2002;415:227-233.
38. Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE: Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 2004;13:26-32.
39. Duran M, Avellan F, Carvajal L: Dilated cardiomyopathy in the ectodermal dysplasia. Electro-echocardiographic observations in palmo-plantar keratoderma with woolly hair. Rev Esp Cardiol 2000;53:1296-1300.
40. Protonotarios N, Tsatsopoulou A: Naxos disease and Carvajal syndrome: Cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185-194.
41. Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Prost Squarcioni C, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE: Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 2004;1:3-11.
42. Djabali K, Martinez-Mir A, Horev L, Christiano AM, Zlotogorski A: Evidence for extensive locus heterogeneity in Naxos disease. J Invest Dermatol 2002;118:557-560.
43. Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G: The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-962.
44. Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, Basso C, Frigo G, Thiene G, Towbin J, Danieli GA: Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): Confirmation of locus assignment and mutation screening of four candidate genes. Eur J Hum Genet 2003;11:69-76.
45. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A: Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 2005;65:366-373.
46. Nattel S, Schott JJ: Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor beta3 gene regulatory regions: A breakthrough? Cardiovasc Res 2005;65:302-304.
47. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-418.
48. Nava A, Canciani B, Daliento L, Miraglia G, Buja G, Fasoli G, Martini B, Scognamiglio R, Thiene G: Juvenile sudden death and effort ventricular tachycardias in a family with right ventricular cardiomyopathy. Int J Cardiol 1988;21:111-126.
49. 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.
50. Bauce B, Nava A, Rampazzo A, Daliento L, Muriago M, Basso C, Thiene G, Danieli GA: Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43. Am J Cardiol 2000;85:573-579.
51. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189-194.
52. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196-200.
53. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485-490.
54. Melacini P, Fanin M, Danieli GA, Villanova C, Martinello F, Miorin M, Freda MP, Miorelli M, Mostacciuolo ML, Fasoli G, Angelini C, Dalla Volta S: Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996;94:3168-3175.
55. Lapidos KA, Kakkar R, McNally EM: The dystrophin glycoprotein complex: Signaling strength and integrity for the sarcolemma. Circ Res 2004;94:1023-1031.
56. Carvalho AA, Levy JA, Gutierrez PS, Marie SK, Sosa EA, Scanavaca M: Emery-Dreifuss muscular dystrophy: Anatomical-clinical correlation (case report). Arq Neuropsiquiatr 2000;58:1123-1127.
57. Fishbein MC, Siegel RJ, Thompson CE, Hopkins LC: Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993;119:900-905.
58. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.
59. Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D: Heart-specific localization of emerin: New insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1997;6:2257-64.
60. Wyse DG, Nath FC, Brownell AK: Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. Pacing Clin Electrophysiol 1987;10(3 Pt 1):533-537.
61. Asano Y, Takashima S, Asakura M, Shintani Y, Liao Y, Minamino T, Asanuma H, Sanada S, Kim J, Ogai A, Fukushima T, Oikawa Y, Okazaki Y, Kaneda Y, Sato M, Miyazaki J, Kitamura S, Tomoike H, Kitakaze M, Hori M: Lamr1 functional retroposon causes right ventricular dysplasia in mice. Nat Genet 2004;36:123-130.
62. Ardini E, Pesole G, Tagliabue E, Magnifico A, Castronovo V, Sobel ME, Colnaghi MI, Menard S: The 67-kDa laminin receptor originated from a ribosomal protein that acquired a dual function during evolution. Mol Biol Evol 1998;15:1017-1025.
63. Schiavon G, Furlan S, Marin O, Salvatori S: Myotonic dystrophy protein kinase of the cardiac muscle: Evaluation using an immunochemical approach. Microsc Res Tech 2002;58:404-411.
64. De Ambroggi L, Raisaro A, Marchiano V, Radice S, Meola G: Cardiac involvement in patients with myotonic dystrophy: Characteristic features of magnetic resonance imaging. Eur Heart J 1995;16:1007-1010.
65. Vignaux O, Lazarus A, Varin J, Coste J, Carlier P, Argaud C, Laforet P, Weber S, Legmann P, Duboc D: Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: Initial results. Radiology 2002;224:231-235.
66. Rakocevic-Stojanovic V, Pavlovic S, Seferovic P, Vasiljevic J, Lavrnic D, Marinkovic Z, Apostolski S: Pathohistological changes in endomyocardial biopsy specimens in patients with myotonic dystrophy. Panminerva Med 1999;41:27-30.
67. Phillips MF, Harper PS: Cardiac disease in myotonic dystrophy. Cardiovasc Res 1997;33:13-22.
68. Tamura K, Tsuji H, Matsui Y, Masui A, Hikosaka M, Karakawa M, Iwasaka T, Inada M: Sustained ventricular tachycardias associated with myotonic dystrophy. Clin Cardiol 1996;19:674-677.
69. Babuty D, Fauchier L, Tena-Carbi D, Poret P, Leche J, Raynaud M, Fauchier JP, Cosnay P: Significance of late ventricular potentials in myotonic dystrophy. Am J Cardiol 1999;84:1099-1101, A10.
70. Pelargonio G, Dello Russo A, Sanna T, De Martino G, Bellocci F: Myotonic dystrophy and the heart. Heart 2002;88:665-670.
71. Bassez G, Lazarus A, Desguerre I, Varin J, Laforet P, Becane HM, Meune C, Arne-Bes MC, Ounnoughene Z, Radvanyi H, Eymard B, Duboc D: Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 2004;63:1939-1941.
72. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F: 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;71:215-218.
73. Wichter T, Paul M, Wollmann C, Acil T, Gerdes P, Ashraf O, Tjan TD, Soeparwata R, Block M, Borggrefe M, Scheld HH, Breithardt G, Bocker D: Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: Single-center experience of long-term follow-up and complications in 60 patients. Circulation 2004;109:1503-1508.
74. Corrado D, Leoni L, Link MS, Della Bella P, Gaita F, Curnis A, Salerno JU, Igidbashian D, Raviele A, Disertori M, Zanotto G, Verlato R, Vergara G, Delise P, Turrini P, Basso C, Naccarella F, Maddalena F, Estes NA 3rd, Buja G, Thiene G: Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108:3084-3091.