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Updated: Jul 10, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy

Kamil Stankowski1,2, Stefano Figliozzi1,2, Vincenzo Battaglia1,2

  • 1Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini, 4, Pieve Emanuele, 20090 Milano, Italy.

Journal of Clinical Medicine
|November 25, 2023
PubMed

Insights

Fabry disease (FD) is a genetic disorder causing heart problems. Early diagnosis using cardiac imaging is key for treatment and improving patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Fabry disease (FD) is a genetic lysosomal storage disorder.
  • Cardiovascular involvement is common in FD and impacts clinical outcomes.
  • Early recognition of FD is crucial for timely treatment and improved prognosis.

Purpose of the Study:

  • To review the role of multimodality cardiac imaging in Fabry disease.
  • To explore the diagnostic and prognostic applications of echocardiography and cardiac MRI in FD.
  • To highlight the importance of imaging in differentiating FD from other causes of left ventricular hypertrophy.

Main Methods:

  • Review of current literature on multimodality cardiac imaging in Fabry disease.
  • Focus on echocardiography and cardiovascular magnetic resonance (CMR).
  • Evaluation of imaging's role in diagnosis, prognosis, and patient follow-up.

Main Results:

  • Multimodality imaging is central to evaluating cardiac involvement in FD.
  • Echocardiography and CMR aid in diagnosing FD and assessing its severity.
  • Imaging assists in differentiating FD from other conditions causing left ventricular hypertrophy.

Conclusions:

  • Multimodality cardiac imaging is essential for managing Fabry disease.
  • Early identification of FD through imaging enables timely enzyme replacement therapy.
  • Cardiac imaging improves prognostic assessment and follow-up strategies for FD patients.

Keywords:
CMRcardiovascular magnetic resonanceechocardiographyhypertrophylate gadolinium enhancementspeckle tracking

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