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Pathophysiology and Treatment of Hypertrophic Cardiomyopathy: New Perspectives

  • Translational Research in Heart Failure (E. Bertero, Section Editor)
  • Published:
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Abstract

Purpose of Review

We provide a state of the art of therapeutic options in hypertrophic cardiomyopathy (HCM), focusing on recent advances in our understanding of the pathophysiology of sarcomeric disease.

Recent Findings

A wealth of novel information regarding the molecular mechanisms associated with the clinical phenotype and natural history of HCM have been developed over the last two decades. Such advances have only recently led to a number of controlled randomized studies, often limited in size and fortune. Recently, however, the allosteric inhibitors of cardiac myosin adenosine triphosphatase, countering the main pathophysiological abnormality associated with HCM-causing mutations, i.e. hypercontractility, have opened new management perspectives. Mavacamten is the first drug specifically developed for HCM used in a successful phase 3 trial, with the promise to reach symptomatic obstructive patients in the near future. In addition, the fine characterization of cardiomyocyte electrophysiological remodelling has recently highlighted relevant therapeutic targets.

Summary

Current therapies for HCM focus on late disease manifestations without addressing the intrinsic pathological mechanisms. However, novel evidence-based approaches have opened the way for agents targeting HCM molecular substrates. The impact of these targeted interventions will hopefully alter the natural history of the disease in the near future.

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Acknowledgements

This paper was supported by the SILICOFCM project that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 777204.

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Authors and Affiliations

  1. Cardiomyopathy Unit, Careggi University Hospital, Largo Brambilla 3, 50134, Florence, Italy

    Mattia Zampieri, Martina Berteotti, Luigi Tassetti, Martina Gabriele, Gabriele Castelli & Iacopo Olivotto

  2. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Cecilia Ferrantini, Niccolò Marchionni & Iacopo Olivotto

  3. Division of Interventional Structural Cardiology, Cardiothoracovascular Department, Careggi University Hospital, Florence, Italy

    Benedetta Tomberli & Francesco Cappelli

  4. Division of Cardiac Surgery, Careggi University Hospital, Florence, Italy

    Pierluigi Stefàno

  5. Division of General Cardiology, Careggi University Hospital, Florence, Italy

    Niccolò Marchionni

  6. Department NeuroFarBa, University of Florence, Florence, Italy

    Raffaele Coppini

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  1. Mattia Zampieri
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  2. Martina Berteotti
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Correspondence to Mattia Zampieri.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Dr. Olivotto is on the advisory board of EXPLORER-HCM trial and has received research funding and speakers’ fees from MyoKardia. The other authors declare that they have no conflict of interest.

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Zampieri, M., Berteotti, M., Ferrantini, C. et al. Pathophysiology and Treatment of Hypertrophic Cardiomyopathy: New Perspectives . Curr Heart Fail Rep 18, 169–179 (2021). https://doi.org/10.1007/s11897-021-00523-0

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