Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy

Journal of Human Genetics

Volumn 50, Issue 8, 2005, Pages 375-381

  Dokuparti, Maithili V N ^a   Pamuru, Pranathi Rao ^a   Thakkar, Bhavesh ^a,b   Tanjore, Reena R ^a   Nallari, Pratibha ^a  

^a OSMANIA UNIVERSITY   (India)

^b KEM HOSPITAL   (India)

Author keywords

ARVC; Desmosomes; Etiopathogenesis; Non coronary; Non inflammatory; Ryanodine receptor; Sudden death; TGF 3

Indexed keywords

DESMOPLAKIN; GLOBIN; PLAKOGLOBIN; RYANODINE RECEPTOR; TRANSFORMING GROWTH FACTOR BETA3;

CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; DESMOSOME; DISEASE ASSOCIATION; DISEASE COURSE; GENE MUTATION; HEART FUNCTION; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MEMBRANE DEPOLARIZATION; MOLECULAR DYNAMICS; MORPHOGENESIS; PATHOGENESIS; PROTEIN ANALYSIS; SARCOPLASMIC RETICULUM; SHORT SURVEY;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DEATH, SUDDEN, CARDIAC; DESMOSOMES; HUMANS; MODELS, BIOLOGICAL; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 25444493643     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0273-5     Document Type: Short Survey

References (34)

1. Ananthasubramaniam K, Khaja F (1998) Arrhythmogenic right ventricular dysplasia/cardiomyopathy: review for the clinician. Prog Cardiovasc Dis 41:237-246
2. Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RAJ, Leigh IM, Hughes AE (1999) Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8:143-148
3. Bauce B, Nava A, Rampazzo A, Daliento L, Muriago M, Basso C, Thiene G, Danieli GA (2000) Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43. Am j Cardiol 85:573-579
4. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A (2005) Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65(2):366-373
5. Bierkamp C, Schwarz H, Huber O, Kemler R (1999) Desmosomal localization of -catenin in the skin of plakoglobin null-mutant mice. Development 126:371-381
6. Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ (1998) Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 97(20):2049-2058
7. Corrado D, Thiene G, Nava A, Rossi L, Pennelli N (1990) Sudden death in young competitive athletes: clinicopathologic correlation in 22 cases. Am J Med 89:588-596
8. Corrado D, Basso C, Schiavon M, Thiene G (1998) Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 339:364-369
9. D'amati G, Di Gioia C, Giordano C, Gallo P (2000) Myocyte transdifferentiation: a possible pathogenetic mechanism for arrhythmogenic right ventricular cardiomyopathy. Arch Pathol Lab Med 124:287-290
10. Fontaine G, Frank R, Vedel J, Grosgogeat Y, Cabrol C, Facquet J (1977) Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery. In: Kulbertus HE (eds) Reentrant Arrhythmias. MTP Publishing, Lancaster, pp 334-350
11. Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 143:2009-2022
12. 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 (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162-1164
13. Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004) Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 167:149-160
14. James TN, Nichols MM, Sapire DW, DiPatre PL, Lopez SM (1996) Complete heart block and fatal right ventricular failure in an infant. Circulation 93:1588-600
15. Kapprell HP, Owaribe K, Franke WW (1988) Identification of a basic protein of Mr 75,000 as an accessory desmosomal plaque protein in stratified and complex epithelia. J Cell Biol 106:1679-1691
16. Mallat Z, Tedjin A, Fontaliran F, Fontaine G (1996) Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. N Engl J Med 335:1190-1196
17. Marx SO, Ondrias K, Marks AR (1998) Coupled gating between individual skeletal muscle Ca21 release channels (ryanodine receptors). Science 281:818-821
18. McKenna WJ, Thiene G, Nava A et al (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 71:215-218
19. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119-2124
20. Molin DG, Bartram U, Van der Heiden K, Van Iperen L, Speer CP, Hierck BP, Poelmann RE, Gittenberger-de-Groot AC (2003) Expression patterns of Tgfbeta1-3 associate with myocardialisation of the outflow tract and the development of the epicardium and the fibrous heart skeleton. Dev Dyn 227(3):431-444
21. Nava A, Canciani B, Daliento L, Miraglia G, Buja G, Fasoli G, Martini B, Scognamiglio R, Thiene G (1988) Juvenile sudden death and effort induced ventricular tachycardias in a family with right ventricular cardiomyopathy. Int J Cardiol 21:111-123
22. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas J-CR, Common J, Purkis PE, Whittock NV, Leigh IM, Stevens HP, Kelsell DP (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761-2766
23. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321-326
24. Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, Tiso N, Thiene G, Danieli GA (1995) A new locus for arrhythmogenic right ventricular cardiomyopathy(ARVD2)maps to chromosome 1q42-q43. Hum Mol Genet 4:2151-2154
25. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71:1200-1206
26. Ruiz P, Brinkmann V, Ledermann B, Behrend M, Grund C, Thalhammer C, Vogel F, Birchmeier C, Gunthert U, Franke WW (1996) Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol 135:215-225
27. Sacco PA, McGranahan TM, Wheelock MJ, Johnson KR (1995) Identification of plakoglobin domains required for association with N-cadherin and a-catenin. J Biol Chem 270:20201-20206
28. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129-33
29. 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 (2001) Identification of mutations in cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2(ARVD 2). Human Mol Genet 10(3):189-194
30. Tsukita S, Tsukita S (1985) Desmocalmin: a calmodulin-binding high molecular weight protein isolated from desmosomes. J Cell Bid 101:2070-2080
31. Valente M, Calabrese F, Thiene G, Angelini A, Basso C, Nava A, Rossi L (1998) Invivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol 152:479-484
32. White P, Aberle H, Vincent JP (1998) Signaling and adhesion activities of mammalian b-catenin and plakoglobin in Drosophila. J Cell Biol 140:183-195
33. Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WHI, Pulkkinen L, Uitto J, Christiano AM, Eady RAJ, McGrath JA (2002) Compound heterozygosity for nonsense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232-238
34. Yamamoto S, Tsyplenkova VG, James TN (2000) Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia. Am J Med Sci 320(5):310-319