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Updated: Feb 11, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Fabry disease: about an uncommon case]
Hamid Jallal1, Ali Khatori1, Laila Bendriss1
1Service de Cardiologie, 3 Hôpital Militaire Laayoune, Maroc.
Insights
We report a case of congestive heart failure caused by Fabry disease-related heart disease in a 60-year-old patient. This study reviews cardiac manifestations and literature on Fabry disease cardiomyopathy.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Fabry disease is a rare genetic disorder.
- It can lead to progressive organ damage, including the heart.
- Cardiac involvement is a significant cause of morbidity and mortality in Fabry disease.
Abstract:
We here report the case of a 60-year old patient with congestive heart failure due to Fabry disease-related cardiopathy. This study has offered the opportunity to perform a literature review on cardiopathy related to this disease as well as to highlight the features of cardiac manifestation in Fabry disease.
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