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Genetics of Mitral Valve Disease

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Mitral Valve Disease

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Abstract

Mitral valve prolapse (MVP) is a common disorder, with a prevalence of 2–3% in the general population. It is the most common cause of primary mitral regurgitation requiring surgery, making the underlying etiology of this condition of significant interest. As a familial pattern is observed in up to half of cases, much work has sought to determine the underlying heritable components that may contribute to this condition. In this chapter, we focus on the genetics of mitral valve prolapse, providing a broad outline of the loci known to be associated with syndromic and non-syndromic forms of MVP, a historical perspective of how some of these loci came to be identified, and a discussion of how these findings have led to novel frameworks for our understanding of at least subsets of patients with this condition. Elucidating the genetic underpinnings of MVP will further our understanding of the biological basis of this disease, and may allow earlier detection of asymptomatic individuals and prediction of disease progression.

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Authors and Affiliations

  1. Department of Medicine, Division of Cardiology, University of California San Francisco, San Francisco, CA, USA

    Arun Padmanabhan & Francesca Nesta Delling

  2. Gladstone Institute of Cardiovascular Disease, San Francisco, CA, USA

    Arun Padmanabhan

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  1. Arun Padmanabhan
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  2. Francesca Nesta Delling
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Correspondence to Francesca Nesta Delling .

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  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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Padmanabhan, A., Delling, F.N. (2021). Genetics of Mitral Valve Disease. In: Wells, F.C., Anderson, R.H. (eds) Mitral Valve Disease. Springer, Cham. https://doi.org/10.1007/978-3-030-67947-7_10

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