Volume 29, Issue 166, December 2025

From diagnosis to therapy: Mavacamten as a breakthrough approach in the treatment of hypertrophic cardiomyopathy

Małgorzata Bacik^1♦, Klaudia Głodowska¹, Kacper Kiereta¹, Zuzanna Cichowska¹, Kinga Piela², Jakub Żelazo³, Katarzyna Wacławek⁴, Aleksandra Rechcińska⁵, Anna Ciesielka⁶, Laura Chmielowiec⁷, Bartłomiej Józef Rdzanek⁸

¹Wrocław Medical University, wyb. Ludwika Pasteura 1, 50-367 Wrocław, Poland
²Uniwersytecki Szpiyal Kliniczny nr 1 im Fryderyka Szopena w Rzeszowie, Emergency Room, Fryderyka Szopena 2, 35-055 Rzeszów, Poland
³Institute of Medical Sciences, University of Rzeszów, mal. mjr. Wacława Kopisto 2A35-959 Rzeszów, Poland
⁴University of Warmia and Mazury in Olsztyn, ul. Michała Oczapowskiego 2, 10-719 Olsztyn, Poland
⁵Central Teaching Hospital of the Medical University of Lodz, Pomorska 251, 92-213 Łódź, Poland
⁶Institute of Medical Sciences, University of Rzeszów, al. Tadeusza Rejtana 16C 35- 959 Rzeszów, Poland
⁷Dolnośląskie Centrum Onkologii, Pulmonologii i Hematologii, Plac Hirszfelda 12, 53-413 Wrocław, Poland
⁸Medical University in Lublin, Al. Racławickie 1, 20-059 Lublin, Poland

^♦Corresponding author
Małgorzata Bacik, Olszyna, ul. Południowa 30, 63-500 Ostrzeszów, Poland

ABSTRACT

Hypertrophic cardiomyopathy (HCM) is the most often genetically determined heart muscle disease – has very complex etiopathogenesis and considerable phenotypic variability. The article provides an overview of the evolution of our understanding of HCM as well as a summary of the latest knowledge about the molecular and clinical foundations of HCM, especially the role of mutations in genes encoding sarcomeric proteins and their impact on cellular mechanics, and the latest diagnostic methods, which allow more accurate identification of high-risk patients. The main part of the article is focused on mavacamten (selective cardiac myosin inhibitor) as a potential breakthrough in the treatment of symptomatic, obstructive HCM. Conclusions of major clinical trials (EXPLORER-HCM, VALORHCM, MAVERICK-HCM) confirm its effectiveness in reducing LVOT gradient and reducing the need for invasive interventions, which highlights the importance of targeted therapies in the context of the future of personalized HCM treatment.

Keywords: hypertrophic cardiomyopathy (HCM), genetic diagnostics, mavacamten, targeted treatment, cardiac myosin inhibitor

Medical Science, 2025, 29, e227ms3729

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DOI: https://doi.org/10.54905/disssi.v29i166.e227ms3729

Published: 23 December 2025