Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy

Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction. The clinical manifestations of FD are diverse and non-specific. In the present study, we report a...

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Bibliographic Details
Main Authors: Weili Cheng, Mingqiang Ao, Dinghu Xu, Yuqing Zhang, Qin Tao
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
case report
Fabry disease
GLA gene
enzyme replacement therapy
prognosis
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2024.1479374/full
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