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Molecular Mechanism of Sarcomeric Cardiomyopathies

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Congestive Heart Failure and Cardiac Transplantation

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Abstract

In the early 1990s, researchers identified a genetic basis for hypertrophic cardiomyopathy (HCM) (Geisterfer-Lowrance et al., Cell, 62(5):999–1006, 1990). They proposed that mutations in sarcomeric genes are causal for the hypertrophic phenotype. This opened the door to a new understanding of the disease pathology (Seidman and Seidman, Cell, 104(4):557–67, 2001). Experimentation into the molecular mechanisms of these mutations, along with increased genetic testing, revealed that sarcomeric gene mutations are also causal for dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). This led to the redefining of these familial diseases as sarcomeric cardiomyopathies (Tardiff et al., Cardiovasc Res, 105(4):457–70, 2015; van der Velden et al., Cardiovasc Res, 105(4):449–56, 2015). This chapter provides an overview of the molecular mechanisms of sarcomeric cardiomyopathies and experimental therapies that target these mechanisms.

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  1. Integrative Biology and Physiology, University of Minnesota, 6-125 Jackson Hall, 321 Church St. SE, Minneapolis, MN, 55455, USA

    Brian R. Thompson PhD, Michelle L. Asp PhD & Joseph M. Metzger PhD

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Editors and Affiliations

  1. Lillehei Heart Institute, Department of Medicine, University of Minnesota Medical Center, University of Minnesota, Minneapolis, Minnesota, USA

    Daniel J. Garry

  2. Division of Cardiovascular Medicine, University of Minnesota, Minneapolis, Minnesota, USA

    Robert F. Wilson

  3. Division of Cardiovascular Medicine, University of Minnesota, Minneapolis, Minnesota, USA

    Zeev Vlodaver

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Thompson, B.R., Asp, M.L., Metzger, J.M. (2017). Molecular Mechanism of Sarcomeric Cardiomyopathies. In: Garry, D., Wilson, R., Vlodaver, Z. (eds) Congestive Heart Failure and Cardiac Transplantation. Springer, Cham. https://doi.org/10.1007/978-3-319-44577-9_10

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  • DOI: https://doi.org/10.1007/978-3-319-44577-9_10

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  • Print ISBN: 978-3-319-44575-5

  • Online ISBN: 978-3-319-44577-9

  • eBook Packages: MedicineMedicine (R0)

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