Skip to main content

The Genetics of Mitral Valve Prolapse

  • Chapter
  • First Online:
Clinical Cardiogenetics

Abstract

Mitral valve prolapse (MVP) is one of the most common forms of valvular heart disease. The clinical presentation can be very diverse, ranging from an incidental finding within asymptomatic patients to dramatic cases with severe mitral regurgitation, heart failure, bacterial endocarditis, or even sudden cardiac death. Mitral valve prolapse appears to be one of the most common Mendelian cardiovascular abnormalities in humans. This chapter briefly discusses the epidemiologic aspects of mitral valve prolapse, its pathophysiology, and the current status of genetic knowledge of this intriguing valvular disorder.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 159.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 209.00
Price excludes VAT (USA)
  • Compact, lightweight 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

References

  1. Barlow JB, Bosman CK. Aneurysmal protrusion of the posterior leaflet of the mitral valve. An auscultatory-electrocardiographic syndrome. Am Heart J. 1966;71:166-178.

    Article  PubMed  CAS  Google Scholar 

  2. Weisse AB. Mitral valve prolapse: now you see it; now you don’t: recalling the discovery, rise and decline of a diagnosis. Am J Cardiol. 2007;99:129-133.

    Article  PubMed  Google Scholar 

  3. Hepner AD, Ahmadi-Kashani M, Movahed MR. The prevalence of mitral valve prolapse in patients undergoing echocardiography for clinical reason. Int J Cardiol. 2007;123:55-57.

    Article  PubMed  Google Scholar 

  4. Freed LA, Levy D, Levine RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med. 1999;341:1-7.

    Article  PubMed  CAS  Google Scholar 

  5. Hayek E, Gring CN, Griffin BP. Mitral valve prolapse. Lancet. 2005;365:507-518.

    PubMed  Google Scholar 

  6. Grau JB, Pirelli L, Yu PJ, et al. The genetics of mitral valve prolapse. Clin Genet. 2007;72:288-295.

    Article  PubMed  CAS  Google Scholar 

  7. Nishimura RA, McGoon MD, Shub C, et al. Echocardiographically documented mitral-valve prolapse. Long-term follow-up of 237 patients. N Engl J Med. 1985;313:1305-1309.

    Article  PubMed  CAS  Google Scholar 

  8. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. 2007;116:1736-1754.

    Article  PubMed  Google Scholar 

  9. Bonow RO, Carabello BA, Chatterjee K, et al. Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the 1998 Guidelines for the Management of Patients With Valvular Heart Disease): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. Circulation. 2008;118:e523-e661.

    Article  PubMed  Google Scholar 

  10. Kligfield P, Levy D, Devereux RB, et al. Arrhythmias and sudden death in mitral valve prolapse. Am Heart J. 1987;113:1298-1307.

    Article  PubMed  CAS  Google Scholar 

  11. Basso C, Corrado D, Thiene G. Cardiovascular causes of sudden death in young individuals including athletes. Cardiol Rev. 1999;7:127-135.

    Article  PubMed  CAS  Google Scholar 

  12. Devereux RB, Brown WT, Kramer-Fox R, et al. Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med. 1982;97:826-832.

    Article  PubMed  CAS  Google Scholar 

  13. Strahan NV, Murphy EA, Fortuin NJ, et al. Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model. Am J Med. 1983;74:967-972.

    Article  PubMed  CAS  Google Scholar 

  14. Weiss AN, Mimbs JW, Ludbrook PA, et al. Echocardiographic detection of mitral valve prolapse. Exclusion of false positive diagnosis and determination of inheritance. Circulation. 1975;52:1091-1096.

    Article  PubMed  CAS  Google Scholar 

  15. Disse S, Abergel E, Berrebi A, et al. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet. 1999;65:1242-1251.

    Article  PubMed  CAS  Google Scholar 

  16. Freed LA, Acierno JS Jr, Dai D, et al. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet. 2003;72:1551-1559.

    Article  PubMed  CAS  Google Scholar 

  17. Nesta F, Leyne M, Yosefy C, et al. New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation. 2005;112:2022-2030.

    Article  PubMed  Google Scholar 

  18. Kyndt F, Gueffet JP, Probst V, et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007;115:40-49.

    Article  PubMed  CAS  Google Scholar 

  19. Sasaki A, Masuda Y, Ohta Y, et al. Filamin associates with Smads and regulates transforming growth factor-beta signaling. J Biol Chem. 2001;276:17871-17877.

    Article  PubMed  CAS  Google Scholar 

  20. Derynck R, Zhang YE. Smad-dependent and Smad-independent pathways in TGF-beta family signalling. Nature. 2003;425:577-584.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Paul L. van Haelst .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer-Verlag London Limited

About this chapter

Cite this chapter

van Haelst, P.L., Oomen, T., van Tintelen, J.P. (2011). The Genetics of Mitral Valve Prolapse. In: Baars, H., Doevendans, P., van der Smagt, J. (eds) Clinical Cardiogenetics. Springer, London. https://doi.org/10.1007/978-1-84996-471-5_15

Download citation

  • DOI: https://doi.org/10.1007/978-1-84996-471-5_15

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84996-470-8

  • Online ISBN: 978-1-84996-471-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics