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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic Cardiomyopathy and Phenocopies: New Therapies for Old Diseases-Current Evidence and Future Perspectives

Maria Alfarano1, Federico Ciccarelli1, Giulia Marchionni1

  • 1Department of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.

Journal of Clinical Medicine
|June 26, 2025
PubMed

Insights

New disease-modifying treatments are transforming the management of hypertrophic cardiomyopathy (HCM) and its rare disease phenocopies. Early diagnosis through multimodality imaging and genetic testing is crucial for effective, personalized therapy.

Area of Science:

  • Cardiology
  • Genetics
  • Pharmacology

Background:

  • Hypertrophic cardiomyopathy (HCM) presents a complex clinical phenotype, encompassing genetic sarcomeric HCM and rare phenocopies like cardiac amyloidosis and Anderson-Fabry disease.
  • Accurate diagnosis relies on identifying red flags, utilizing multimodality imaging (echocardiography, cardiac MRI), and genetic testing to differentiate underlying causes.
  • The availability of disease-modifying therapies necessitates precise diagnosis for optimal patient outcomes.

Purpose of the Study:

  • To review emerging disease-modifying treatments for hypertrophic cardiomyopathy (HCM) and its phenocopies.
  • To highlight the impact of new therapies on managing these complex cardiac conditions.
  • To provide an evidence-based overview of current and investigational treatment options.

Main Methods:

  • Literature review of current scientific evidence on HCM and phenocopy treatments.
  • Analysis of therapeutic strategies for AL amyloidosis, transthyretin cardiac amyloidosis, and Anderson-Fabry disease.
  • Evaluation of novel agents, including cardiac myosin inhibitors, for hypertrophic obstructive cardiomyopathy.

Main Results:

  • Significant advancements include chemotherapy for AL amyloidosis, transthyretin stabilizers and gene silencers for TTR amyloidosis, and enzyme replacement/chaperone therapy for Anderson-Fabry disease.
  • Cardiac myosin inhibitors (mavacamten, aficamten) represent a major therapeutic advance in hypertrophic obstructive cardiomyopathy.
  • The diagnostic pathway integrating imaging and genetics is key to accessing these targeted treatments.

Conclusions:

  • The landscape of HCM and phenocopy treatment is rapidly evolving with novel disease-modifying therapies.
  • Precise diagnosis is paramount to guide the selection of appropriate, evidence-based treatments.
  • Ongoing research and clinical trials continue to expand therapeutic options for patients with hypertrophic phenotypes.

Keywords:
cardiac magnetic resonancecardiomyopathydisease-modifying therapygenetic test

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