References

  1. Marcus FI, Fontaine GH, Guiraudon G et al (1982) Right ventricular dysplasia: A report of 24 adult cases. Circulation 65:3884-3898
  2. Thiene G, Nava A, Corrado D et al (1988) Right ventricular cardiomyopathy and sudden death in young people. New Engl J Med 318:129-133
  3. Peters S, Trummel M, Meyners W (2004) Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital. Int J Cardiol 97:499-501
  4. Corrado D, Basso C, Thiene G et al (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol 30:1312-1520
  5. Corrado D, Basso C, Schiavon M et al (1998) Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 339:364-369
  6. Tabib A, Loire R, Chalabreysse L et al (2004) 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 108:3000-3005
  7. Corrado D, Leoni L, Link MS et al (2003) Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 108:3084-3091
  8. Suzuki H, Sumiyoshi M, Kawai S et al (2000) Arrhyth-mogenic right ventricular cardiomyopathy with an initial manifestation of severe left ventricular impairment and normal contraction of the right ventricle. Jpn Circ J 64:209-213
  9. Basso C, Thiene G, Corrado D et al (1996) Arrhyth-mogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94:983-991
  10. Bowles NE, Ni J, Marcus F, Towbin JA (2002) The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dys-plasia/cardiomyopathy. J Am Coll Cardiol 39:892-895
  11. Bowles NE, Bowles KR, Towbin JA. (2000) The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 25:168-175
  12. Towbin JA, Bowles NE (2001) Arrhythmogenic inherited heart muscle diseases in children. J Electrocardiol 34:151-165
  13. Bowles NE, Bowles K, Towbin JA (2000) Prospects for gene therapy for inherited cardiomyopathies. Prog Pe-diatr Cardiol 12:133-145
  14. Rampazzo A, Nava A, Malacrida S et al (2002) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 7:1200-1206
  15. Gerull B, Heuser A, Wichter T et al (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162-1164
  16. Dalal D, Molin LH, Piccini J et al (2006) Clinical features of arrhythmogenic right ventricular dysplasia /cardiomyopathy associated with mutations in plakophilin-2. Circulation 113:1641-1649
  17. Pilichou K, Nava A, Basso C et al (2006) Mutations in desmoglein-2 gene are associated with arrhythmo-genic right ventricular cardiomyopathy. Circulation 113:1171-1179
  18. McKoy G, Protonotarios N, Crosby A et al (2000) Identification of a deletion in plakoglobin in right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119-2124
  19. Protonotarios N, Tsatsopoulou A, Patsourakos P et al (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321-326
  20. Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomy-opathy. J Am Acad Dermatol 44:309-311
  21. Norgett EE, Hatsell SJ, Carvajal-Guerta L et al (2000) Recessive mutation in desmoplakin disrupts desmo-plakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761-2766
  22. McMillan JR, Shimizu H (2001) Desmosomes: Structure and function in normal and diseased epidermis. J Dermatol 28:291-298
  23. Green KJ, Gaudry CA (2000) Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 1:208-216
  24. Beffagna G, Occhi G, Nava A et al (2005) Regulatory mutations in transforming growth factor-beta3 gene cause arrhythogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65:366-373
  25. Tiso N, Stephan DA, Nava A et al (2001) Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10:189-194
  26. Laitinen PJ, Swan H, Piippo K et al (2004) Genes, exercise and sudden death: Molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. Ann Med 36:81-86
  27. Priori SG, Napolitano C, Memmi M et al (2002) Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 106:8-10
  28. Dalloz F, Osinska H, Robbins J (2001) Manipulating the contractile apparatus: Gentically defined animal models of cardiovascular disease. J Mol Cell Cardiol 33:9-25
  29. Maass A, Leinwand LA (2000) Animal models of hy-pertrophic cardiomyopathy. Curr Opin Cardiol 15:189-196
  30. Thierfelder L, Watkins H, MacRae C et al (1994) Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 77:701-712
  31. Roopnarine O, Leinwand LA (1998) Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. Biophys J 75:3023-3030
  32. Asano Y, Takashima S, Asakura M et al (2004) Lamrl functional retroposon causes right ventricular dysplasia in mice. Nat Genet 36:123-130
  33. Kannankeril PJ, Mitchell BM, Goonasekera SA et al (2006) Mice with the R176Q cardiac ryanodine receptor mutation catecholamine-induced ventricular tachycardia and cardiomyopathy. Proc Natl Acad Sci USA 103:12179-12184
  34. Appleton GO, Li Y, Taffet GE, Hartley CJ et al (2004) Determinants of cardiac electrophysiological properties in mice. J Intervent Card Electrophysiol 11:5-14
  35. Hatzfeld M (2007) Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion? Biochim Biophys Acta 1773:69-77
  36. Hatzfeld M (1999) The armadillo family of structural proteins. Int Rev Cytol 186:179-224
  37. Grossmann KS, Grund C, Huelsken J et al (2004) Requirement of plakophillin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 167:149-160
  38. Cowin P, Kapprell HP, Franke WW et al (1986) Plakoglobin: A protein common to different kinds of intercellular adhering junctions. Cell 46:1063-1073
  39. Zhurinsky J, Shtutman M, Ben-Ze'ev A (2000) Plako-globin and beta-catenin: Protein interactions, regulation and biological roles. J Cell Sci 113:3127-3139
  40. Ruiz P, Brinkmann V, Ledermann B et al (1996) Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol 135:215-225
  41. Bierkamp C, McLaughlin KJ, Schwarz H et al (1996) Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 180:780-785
  42. Norman M, Simpson M, Mogensen J et al (2005) Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 112:636-642
  43. Agah R, Frenkel PA, French BA et al (1997) Gene recombination in postmitotic cells. Targeted expression of Cre recombinase provokes cardiac-restricted, site-specific rearrangement in adultventricular muscle in vivo. J Clin Invest 100:169-179
  44. Garcia-Gras E, Lombardi R, Giocondo MJ et al (2006) Suppression of canonical Wnt/b-catenin signaling by nuclear plakoglobin recapitulates phenotype of ar-rhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012-2021
  45. Gallicano GI, Kouklis P, Bauer C et al (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 143:2009-2022
  46. Gallicano GI, Bauer C, Fuchs E (2001) Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin, and vasculature. Development 128:929-941
  47. Klymkowsky MW,Williams BO, Barish GD et al (1999) Membrane-anchored plakoglobins have multiple mechanisms of action in Wnt signaling. Mol Biol Cell 10:3151-3169
  48. Yang Z, Bowles NE, Scherer SE et al (2006) Desmosomal dysfunction due to mutations in desmoplakin cause arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res 99:646-655
  49. MacRae CA, Birchmeier W, Thierfelder L (2006) Ar-rhythmogenic right ventricular cardiomyopathy: Moving toward mechanism. J Clin Invest 116:18251828
  50. Nerbonne JM (2004) Studying cardiac arrhythmias in the mouse - a reasonable model for probing mechanisms? Trends Cardiovasc Med 14:83-93

CHAPTER

Was this article helpful?

0 0

Post a comment