Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement

Int J Mol Sci. 2023 Aug 26;24(17):13239. doi: 10.3390/ijms241713239.


One of the main causes of heart failure is cardiomyopathies. Among them, the most common is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular muscle. This article focuses on HCM and other cardiomyopathies with myocardial hypertrophy, including Fabry disease, Pompe disease, and Danon disease. The genetics and pathogenesis of these diseases are described, as well as current and experimental treatment options, such as pharmacological intervention and the potential of gene therapies. Although genetic approaches are promising and have the potential to become the best treatments for these diseases, further research is needed to evaluate their efficacy and safety. This article describes current knowledge and advances in the treatment of the aforementioned cardiomyopathies.

Keywords: Danon disease; Fabry disease; Pompe disease; gene therapies; genetics; hypertrophic cardiomyopathy.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic* / genetics
  • Cardiomyopathy, Hypertrophic* / therapy
  • Fabry Disease* / genetics
  • Fabry Disease* / therapy
  • Glycogen Storage Disease Type IIb*
  • Heart Failure*
  • Humans
  • Myocardium

Grants and funding

The authors declare that this publication received internal funds of Medical University of Warsaw.