Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Jan 7;77(1):5.
doi: 10.1186/s43044-024-00600-4.

Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies

Samuel Oluwadare Olalekan  1 , Olalekan Olanrewaju Bakare  2 , Patrick Godwin Okwute  3 , Ifabunmi Oduyemi Osonuga  4 , Muinat Moronke Adeyanju  2 , Victoria Biola Edema  4
Affiliations
Review

Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies

Samuel Oluwadare Olalekan et al. Egypt Heart J. .

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is a frequently encountered cardiac condition worldwide, often inherited, and characterized by intricate phenotypic and genetic manifestations. The natural progression of HCM is diverse, largely due to mutations in the contractile and relaxation proteins of the heart. These mutations disrupt the normal structure and functioning of the heart muscle, particularly affecting genes that encode proteins involved in the contraction and relaxation of cardiac muscle.

Main body: This review focused on understanding the role of contractile and relaxation proteins in the pathogenesis of hypertrophic cardiomyopathy. Mutations in contractile proteins such as myosin, actin, tropomyosin, and troponin are associated with hypercontractility and increased sensitivity of the heart muscle, leading to HCM. Additionally, impaired relaxation of the heart muscle, linked to abnormalities in proteins like phospholamban, sarcolipin, titin, myosin binding protein-C, and calsequestrin, contributes significantly to the disease. The review also explored the impact of targeted therapeutic approaches aimed at modulating these proteins to improve patient outcomes. Recent advances in therapeutic strategies, including novel pharmacological agents like mavacamten and aficamten, were examined for their potential to help patients manage the disease and lead more accommodating lifestyles.

Conclusions: The review underscored the significance of early diagnosis and personalized treatment approaches in managing HCM. Future research should prioritize the development of robust biomarkers for early detection and risk stratification, particularly in diverse populations, to enhance clinical outcomes. Furthermore, it is imperative to delve deeper into the genetic mutations and molecular mechanisms associated with HCM, with a focus on exploring the roles of less-studied myocardial relaxation proteins and their interactions with sarcomere constituents.

Keywords: Cardiac myosin inhibitors; Genetic therapy; Hypertrophic cardiomyopathy; Sarcomere proteins.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare no known competing interests.

References

    1. Massera D, Sherrid MV, Maron MS, Rowin EJ, Maron BJ (2023) How common is hypertrophic cardiomyopathy… really?: disease prevalence revisited 27 years after CARDIA. Int J Cardiol 382:64–67. 10.1016/j.ijcard.2023.04.005 - PubMed
    1. Maurizi N et al (2023) Real-world use and predictors of response to disopyramide in patients with obstructive hypertrophic cardiomyopathy. J Clin Med 12(7):2725. 10.3390/jcm12072725 - PMC - PubMed
    1. Bai Y et al (2022) Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China. Sci Reports. 10.1038/s41598-022-20042-9 - PMC - PubMed
    1. Moon I et al (2020) Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: a nationwide population-based cohort study. PLoS ONE 15(1):e0227012. 10.1371/journal.pone.0227012 - PMC - PubMed
    1. Butzner M et al (2021) Clinical diagnosis of hypertrophic cardiomyopathy over time in the United States (a population-based claims analysis). Am J Cardiol 159:107–112. 10.1016/j.amjcard.2021.08.024 - PubMed

LinkOut - more resources