Related Experiment Video
Updated: Nov 17, 2025
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
Published on: June 14, 2016
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week
Maurizio Pieroni1, James C Moon2, Eloisa Arbustini3
1Cardiovascular Department, San Donato Hospital, Arezzo, Italy.
Insights
Fabry disease (FD) is a rare genetic disorder affecting the heart due to low alpha-galactosidase A. Early diagnosis and treatment are crucial for managing cardiac issues and improving patient outcomes.
Area of Science:
- Genetics and rare diseases
- Cardiology
- Lysosomal storage disorders
Background:
- Fabry disease (FD) is an X-linked inherited lysosomal storage disorder.
- Deficient alpha-galactosidase A activity leads to globotriaosylceramide (Gb3) accumulation, particularly affecting the heart.
- Cardiovascular manifestations like left ventricular hypertrophy and fibrosis are common, impacting quality of life and survival.
Purpose of the Study:
- To highlight the importance of early diagnosis and treatment for Fabry disease.
- To discuss recent advances in understanding Fabry cardiomyopathy pathophysiology.
- To review evolving diagnostic and therapeutic strategies for FD.
Main Methods:
- Review of current literature on Fabry disease pathophysiology and cardiac involvement.
- Analysis of advancements in diagnostic imaging techniques for cardiac manifestations.
- Evaluation of emerging therapeutic approaches, including enzyme replacement and chaperone therapy.
Main Results:
- Cardiovascular involvement in FD is complex, involving Gb3 accumulation and other contributing mechanisms.
- Advanced imaging techniques aid in diagnosing and staging cardiac disease, with evidence of myocardial inflammation.
- The treatment landscape for FD is rapidly evolving with new therapies.
Conclusions:
- Early diagnosis and intervention are critical to mitigate cardiac complications in Fabry disease.
- Myocardial inflammation plays a significant role in Fabry cardiomyopathy, warranting further investigation.
- Novel therapeutic strategies offer improved management options for patients with FD.
Abstract:
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving.
