Skip to main content
SpringerLink
Log in

Ultrastructural Substrates

  • Chapter
Arrhythmogenic RV Cardiomyopathy/Dysplasia

  • 658 Accesses

Abstract

There have been extensive studies on the morphological findings and pathogenesis of ARVC/D [1–3]. However, little attention has been directed toward the ultrastructural features of the disease.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Thiene G, Nava A, Corrado D et al (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318:129–133

    Article  PubMed  CAS  Google Scholar 

  2. Basso C, Thiene G, Corrado D et al (1996) Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94:983–991

    PubMed  CAS  Google Scholar 

  3. Thiene G, Basso C (2001) Arrhythmogenic right ventricular cardiomyopathy. An update. Cardiovasc Pathol 10:109–111

    Article  PubMed  CAS  Google Scholar 

  4. Mallat Z, Tedgui A, Fontaliran F et al (1996) Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. N Engl J Med 335:1190–1196

    Article  PubMed  CAS  Google Scholar 

  5. Valente M, Calabrese F, Thiene G et al (1998) In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol 152:479–484

    PubMed  CAS  Google Scholar 

  6. Nishikawa T, Ishiyama S, Nagata M et al (1999) Programmed cell death in the myocardium of arrhythmogenic right ventricular cardiomyopathy in children and adults. Cardiovasc Pathol 8:185–189

    Article  PubMed  CAS  Google Scholar 

  7. McKoy G, Protonotarios N, Crosby A et al (2000) Identification of a deletion of plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and wooly hair (Naxos disease). Lancet 335:2119–2124

    Article  Google Scholar 

  8. Norgett EE, Hatsell SJ, Carvajal-Huerta L et al (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761–2766

    Article  PubMed  CAS  Google Scholar 

  9. Whittock NV, Wan H, Morley SM et al (2002) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232–238

    Article  PubMed  CAS  Google Scholar 

  10. Rampazzo A, Nava A, Malacrida A et al (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

    Article  PubMed  CAS  Google Scholar 

  11. Alcalai R, Metzger S, Resenheck S et al (2003) A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and wooly hair. J Am Coll Cardiol 42:319–327

    Article  PubMed  CAS  Google Scholar 

  12. Gerull B, Heuser A, Wichter T et al (2004) Mutations in the demosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36:1162–1164

    Article  PubMed  CAS  Google Scholar 

  13. Pilichou K, Nava A, Basso C et al (2006) Mutations in Desmoglein-2 gene are associated to arrhythmogenic right ventricular cardiomyopathy. Circulation 113:1171–1179

    Article  PubMed  CAS  Google Scholar 

  14. 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

    Article  PubMed  CAS  Google Scholar 

  15. Beffagna G, Occhi G, Nava A et al (2005) Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65:366–373

    Article  PubMed  CAS  Google Scholar 

  16. Roncali L, Nico B, Locuratolo N et al (1989) Right ventricular dysplasia: An ultrastructural study. Eur Heart J 10:97–99

    PubMed  Google Scholar 

  17. Guiraudon CM (1989) Histological diagnosis of right ventricular dysplasia: A role for electron microscopy? Eur Heart J 10:95–96

    PubMed  Google Scholar 

  18. Blankenship DC, Hug G, Balko G et al (1993) Hemodynamic and myocyte mitochondrial ultrastructural abnormalities in arrhythmogenic right ventricular dysplasia. Am Heart J 126:989–995

    Article  PubMed  CAS  Google Scholar 

  19. Basso C, Czarnowska E, Della Barbera M et al (2006) Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies. Eur Heart J 27:1847–1854

    Article  PubMed  Google Scholar 

  20. Smith EA, Fuchs E (1998) Defining the interactions between intermediate filaments and desmosomes. J Cell Biol 141:1229–1241

    Article  PubMed  CAS  Google Scholar 

  21. Green KJ, Gaudry CA (2000) Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 1:208–216

    Article  PubMed  CAS  Google Scholar 

  22. Severs NJ, Rothery S, Dupont E et al (2001) Immunocytochemical analysis of connexin expression in the healthy and diseased cardiovascular system. Microsc Tes Tech 52:301–322

    Article  CAS  Google Scholar 

  23. Bierkamp C, McLaughlin KJ, Schwarz H et al (1996) Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol 180:780–785

    Article  PubMed  CAS  Google Scholar 

  24. Kaplan SR, Gard JJ, Carvajal-Huerta L et al (2004) Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 13:26–32

    Article  PubMed  CAS  Google Scholar 

  25. Kaplan SR, Gard JJ, Protonotarios N et al (2004) Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1:3–11

    Article  PubMed  Google Scholar 

  26. Kostin S, Heling A, Hein S et al (1998) The protein composition of the normal and diseased cardiac myocyte. Heart Failure Rev 2:245–260

    Article  CAS  Google Scholar 

  27. Aquila LA, McCarthy PM, Smedira NG et al (2004) Cytoskletal structure and recovery in single cardiac myocytes. J Heart Lung Transplant 23:954–963

    Article  PubMed  Google Scholar 

  28. Calaghan SC, Le Guennec J-Y, White E (2004) Cytoskletal modulation of electrical and mechanical activity in cardiac myocytes. Progress Biophys Mol Biol 84:29–59

    Article  CAS  Google Scholar 

  29. Di Somma S, Di Benedetto MP, Salvatore G et al (2004) Desmin-free cardiomyocytes and myocardial dysfunction in end stage heart failure. Eur J Heart Fail 6:389–398

    Article  PubMed  CAS  Google Scholar 

  30. Hein S, Kostin S, Heling A et al (2000) The role of the cytoskeleton in heart failure. Cardovasc Res 45:273–278

    Article  CAS  Google Scholar 

  31. Choquet D, Felsenfeld DP, Sheetz MP (1997) Extracellular matrix rigidity causes strengthening of integrincytoskeletal linkages. Cell 88:39–48

    Article  PubMed  CAS  Google Scholar 

  32. Yamamoto S, Tsyplenkova VG, James TN (2000) Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia. Am J Med Sci 320:310–319

    Article  PubMed  Google Scholar 

  33. Ausma J, Wijffels M, van Eys G et al (1997) Dedifferentiation of atrial cardiomyocytes as a result of chronic atrial fibrillation. Am J Pathol 151:985–997

    PubMed  CAS  Google Scholar 

  34. Rucker-Martin C, Pecker F, Godreau D et al (2002) Dedifferentiation of atrial myocytes during atrial fibrillation: Role of fibroblast proliferation in vitro. Cardiovasc Res 55:38–52

    Article  PubMed  CAS  Google Scholar 

  35. Dyspersyn GD, Mesotten L, Meuris B et al (2002) Dissociation of cardiomyocyte apoptosis and dedifferentiation in infarct border zones. Eur Heart J 23:849–857

    Article  Google Scholar 

  36. Dyspersyn GD, Ausma J, Thone F et al (1999) Cardiomyocyte remodeling during myocardial hibernation and atrial fibrillation: Prelude to apoptosis? Cardiovasc Res 43:947–957

    Article  Google Scholar 

  37. Masani F, Aizawa Y, Izumi T et al (1990) An ultrastructural study of arrhythmogenic ventricular dysplasia with special reference to lipid droplets. Heart Vessels 5:55–58

    CAS  Google Scholar 

  38. D’Amati G, di Gioia CR, Giordano C et al (2000) Myocyte transdifferentiation: A possible pathogenetic mechanism for arrhythmogenic right ventricular cardiomyopathy. Arch Pathol Lab Med 124:287–290

    PubMed  CAS  Google Scholar 

  39. Ross SE, Hemati N, Longo KA et al (2000) Inhibition of adipogenesis by Wnt signaling. Science 289:950–953

    Article  PubMed  CAS  Google Scholar 

  40. Schiller PC, D’Ippolito G, Brambilla R et al (2001) Inhibition of gap-junctional communication induces the trans-differentiation of osteoblasts to an adipocytic phenotype in vitro. J Biol Chem 276:14133–14138

    PubMed  CAS  Google Scholar 

  41. Hu E, Tontonoz P, Spiegelman BM (1995) Transdifferentiation of myoblasts by adipogenic transcription factors PPAR gamma and C/EBP Ralpha. Proc Natl Acad Sci USA 92:9856–9860

    Article  PubMed  CAS  Google Scholar 

  42. Seidensticker MJ, Behrens J (2000) Biochemical interactions in the wnt pathway. Biochem Biophys Acta 1495:168–182

    Article  PubMed  CAS  Google Scholar 

  43. Garcia-Gras E, Lombardi F, Giocondo MJ et al (2006) Suppression of canonical Wnt/beta-catening signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 116:2012–2021

    Article  PubMed  CAS  Google Scholar 

  44. Yang Z, Bowles NE, Scherer SE et al (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res 99:646–655

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology, The Children’s Memorial Health Institute, Warzaw, Poland

    Elzbieta Czarnowska PhD

  2. Department of Medical Diagnostic Sciences, University of Padua, Italy

    Mila Della Barbera, Gaetano Thiene MD, Marialuisa Valente MD & Cristina Basso MD, PhD

Authors
  1. Elzbieta Czarnowska PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mila Della Barbera
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gaetano Thiene MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Marialuisa Valente MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Cristina Basso MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Section of Cardiology, Department of Medicine, Sarver Heart Center, University of Arizona, Tucson, AZ, USA

    Frank I. Markus

  2. Department of Cardiological, Thoracic and Vascular Sciences, University of Padua, Italy

    Andrea Nava

  3. Department of Medical Diagnostic Sciences, University of Padua, Italy

    Gaetano Thiene

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer-Verlag Italia

About this chapter

Cite this chapter

Czarnowska, E., Della Barbera, M., Thiene, G., Valente, M., Basso, C. (2007). Ultrastructural Substrates. In: Markus, F.I., Nava, A., Thiene, G. (eds) Arrhythmogenic RV Cardiomyopathy/Dysplasia. Springer, Milano. https://doi.org/10.1007/978-88-470-0490-0_7

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-0490-0_7

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-0489-4

  • Online ISBN: 978-88-470-0490-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation