Skip to main content
SpringerLink
Log in

Genetic Origins of Right Ventricular Cardiomyopathies

  • Chapter
Congenital Diseases in the Right Heart

  • 1064 Accesses

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. Marcus FI, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384–98.

    PubMed  CAS  Google Scholar 

  2. Fontaine G, et al. Arrhythmogenic right ventricular dysplasia and Uhl's disease. Arch Mal Coeur Vaiss. 1982;75(4):361–71.

    PubMed  CAS  Google Scholar 

  3. Thiene G, et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318(3):129–33.

    PubMed  CAS  Google Scholar 

  4. Basso C, et al. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation. 1996;94(5):983–91.

    PubMed  CAS  Google Scholar 

  5. Corrado D, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997;30(6):1512–20.

    Article  PubMed  CAS  Google Scholar 

  6. Frank R, et al. [Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia]. Arch Mal Coeur Vaiss. 1978;71(9):963–72.

    PubMed  CAS  Google Scholar 

  7. Norman MW and McKenna WJ. Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease. Z Kardiol. 1999;88(8):550–4.

    Article  Google Scholar 

  8. Tabib A, 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(24):3000–5.

    Article  PubMed  CAS  Google Scholar 

  9. Corrado D, et al. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol. 2003;42(11):1959–63.

    Article  PubMed  Google Scholar 

  10. Shen WK, et al. Sudden unexpected nontraumatic death in 54 young adults: a 30-year population-based study. Am J Cardiol. 1995;76(3):148–52.

    Article  PubMed  CAS  Google Scholar 

  11. McKenna WJ, 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(3):215–8.

    Article  PubMed  CAS  Google Scholar 

  12. Nava A, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol. 1988;12(5):1222–8.

    Article  PubMed  CAS  Google Scholar 

  13. Nava A, et al. [Analysis of the mode of transmission of right ventricular dysplasia]. Arch Mal Coeur Vaiss. 1990;83(7):923–8.

    PubMed  CAS  Google Scholar 

  14. Rampazzo A, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet. 1994;3(6):959–62.

    Article  PubMed  CAS  Google Scholar 

  15. Rampazzo A, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet. 1995;4(11):2151–4.

    Article  PubMed  CAS  Google Scholar 

  16. Severini GM, et al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics. 1996;31(2):193–200.

    Article  PubMed  CAS  Google Scholar 

  17. Rampazzo A, et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics. 1997;45(2):259–63.

    Article  PubMed  CAS  Google Scholar 

  18. Ahmad F, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998;98(25):2791–5.

    PubMed  CAS  Google Scholar 

  19. Hodgkinson KA, et al. The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). J Am Coll Cardiol. 2005;45(3):400–8.

    Article  PubMed  Google Scholar 

  20. Li D, et al. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12–p14. Am J Hum Genet. 2000;66(1):148–56.

    Article  PubMed  CAS  Google Scholar 

  21. Melberg A, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999;46(5):684–92.

    Article  CAS  Google Scholar 

  22. Protonotarios N, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986;56(4):321–6.

    Article  PubMed  CAS  Google Scholar 

  23. Coonar AS, et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998;97(20):2049–58.

    PubMed  CAS  Google Scholar 

  24. McKoy G, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355(9221):2119–24.

    Article  PubMed  CAS  Google Scholar 

  25. Norgett EE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9(18):2761–6.

    Article  PubMed  CAS  Google Scholar 

  26. Rampazzo A, 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(5):1200–6.

    Article  PubMed  CAS  Google Scholar 

  27. Norman M, et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 2005;112(5):636–42.

    Article  PubMed  CAS  Google Scholar 

  28. Bauce B, et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J. 2005;26(16):1666–75.

    Article  PubMed  CAS  Google Scholar 

  29. Fatkin D, Graham RM. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev. 2002;82(4):945–80.

    PubMed  CAS  Google Scholar 

  30. Gerull B, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36(11):1162–4.

    Article  PubMed  CAS  Google Scholar 

  31. Syrris P, et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113(3):356–64.

    Article  PubMed  CAS  Google Scholar 

  32. van Tintelen JP, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006;113(13):1650–8.

    Article  PubMed  CAS  Google Scholar 

  33. Dalal D, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113(13):1641–9.

    Article  PubMed  CAS  Google Scholar 

  34. Pilichou K, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113(9):1171–9.

    Article  PubMed  CAS  Google Scholar 

  35. Marks AR, et al. Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. J Cell Physiol. 2002;190(1):1–6.

    Article  PubMed  CAS  Google Scholar 

  36. Tiso N, 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(3):189–94.

    Article  PubMed  CAS  Google Scholar 

  37. Beffagna G, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65(2):366–73.

    Article  PubMed  CAS  Google Scholar 

  38. Dalal D, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823–32.

    Article  PubMed  Google Scholar 

  39. Hamid MS, 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(8):1445–50.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Inherited Cardiovascular Disease Group, University College London, London, UK

    Deirdre Ward

Authors
  1. Deirdre Ward
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Srijita Sen-Chowdhry
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maria Teresa Tome Esteban
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Giovanni Quarta
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. William J McKenna
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. The Labatt Family Heart Centre, The Hospital for Sick Children, Toronto, Canada

    Andrew N. Redington  & Glen S. Van Arsdell  & 

  2. Cardiac Unit, Institute of Child Health, University College London, London, UK

    Robert H. Anderson

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer-Verlag London Limited

About this chapter

Cite this chapter

Ward, D., Sen-Chowdhry, S., Tome Esteban, M.T., Quarta, G., McKenna, W.J. (2009). Genetic Origins of Right Ventricular Cardiomyopathies. In: Redington, A.N., Van Arsdell, G.S., Anderson, R.H. (eds) Congenital Diseases in the Right Heart. Springer, London. https://doi.org/10.1007/978-1-84800-378-1_15

Download citation

  • DOI: https://doi.org/10.1007/978-1-84800-378-1_15

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84800-377-4

  • Online ISBN: 978-1-84800-378-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation