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How Cardiac Cytoarchitecture Can Go Wrong: Hypertrophic Cardiomyopathy as a Paradigm for Genetic Disease of the Heart

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Cardiac Cytoarchitecture

Abstract

The genetic cardiomyopathies are a group of inherited heart disorders with variable pathophysiology and clinical phenotype. As an example, hypertrophic cardiomyopathy will be discussed in this chapter. Clinical features and therapeutic options will be outlined, followed by a review of the underlying genetics of disease. The pathomechanisms of causative mutations will be discussed, with reference to both sarcomeric and non-sarcomeric genes. Finally, the potential and pitfalls of next-generation sequencing as applied to genetic cardiomyopathies will be analysed.

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Acknowledgement

KG is supported by a British Heart Foundation Grant (FS/12/40/29712).

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  1. Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Level 6, West Wing, Oxford, OX3 9DU, UK

    Thomas J. Cahill & Katja Gehmlich

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  1. Thomas J. Cahill
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Correspondence to Katja Gehmlich .

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  1. Randall Div. of Cell and Mol. Biophysics and Cardiovascular Division Guy’s Campus, Faculty of Life Sciences and Medicine King’s College London, London, United Kingdom

    Elisabeth Ehler

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J. Cahill, T., Gehmlich, K. (2015). How Cardiac Cytoarchitecture Can Go Wrong: Hypertrophic Cardiomyopathy as a Paradigm for Genetic Disease of the Heart. In: Ehler, E. (eds) Cardiac Cytoarchitecture. Springer, Cham. https://doi.org/10.1007/978-3-319-15263-9_11

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