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Genetics and Genetic Counselling Relevant to Mitral Valve Prolapse

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Mitral Valve Disease

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Abstract

Mitral valve prolapse (MVP) remains the most prevalent valvular abnormality worldwide and has a well established familial component which has been the driver for understanding genetic underpinnings. With the advent of genomics and precision medicine, patients with MVP may be referred for genetic counselling and testing. Referral may be prompted for connective tissue disease with MVP, syndromic conditions with known MVP associations, in arrhythmic MVP with suspected ion channel- or cardiomyopathy-related genes and increasingly with single nucleotide polymorphisms and polygenic risk scores. In this chapter, genetics of MVP and counselling of both probands and family members are reviewed.

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Author information

Authors and Affiliations

  1. Royal Papworth Hospital, Cambridge, UK

    C. Anwar A. Chahal

  2. Hospital of the University of Pennsylvania, Philadelphia, PA, USA

    C. Anwar A. Chahal

  3. Université de Paris, INSERM, Paris Cardiovascular Research Center, Paris, France

    Nabila Bouatia-Naji

Authors
  1. C. Anwar A. Chahal
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  2. Nabila Bouatia-Naji
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Correspondence to C. Anwar A. Chahal .

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Editors and Affiliations

  1. Department of Cardiac Surgery, Royal Papworth Hospital, Cambridge, UK

    Francis C. Wells

  2. Biosciences Institute, Newcastle University, Newcastle-upon-Tyne, UK

    Robert H. Anderson

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Chahal, C.A.A., Bouatia-Naji, N. (2021). Genetics and Genetic Counselling Relevant to Mitral Valve Prolapse. In: Wells, F.C., Anderson, R.H. (eds) Mitral Valve Disease. Springer, Cham. https://doi.org/10.1007/978-3-030-67947-7_11

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  • DOI: https://doi.org/10.1007/978-3-030-67947-7_11

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  • Online ISBN: 978-3-030-67947-7

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