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Research Article Open access CC BY 4.0

From Transient Ischemic Attack to Acute Heart Failure: Unmasking Fabry Disease in a Young Woman with Hypertrophic Cardiomyopathy

S. EJJEBLI, A. ALTIMIMI, A. BOULAHNACH, H. EJJEBLI, S. AROUS, M. HABOUB, A. DRIGHIL, R. HABBAL

Asian Journal of Cardiology Research · pp. 323–330 · Published 31 May 2025

10.9734/ajcr/2025/v8i1281

Abstract

We report the case of a 20-year-old woman admitted to the cardiology intensive care unit for acute heart failure. Initial evaluations suggested hypertrophic cardiomyopathy (HCM), but cardiac magnetic resonance imaging (MRI) revealed diffuse myocardial fibrosis and features consistent with Fabry disease. Despite optimal medical therapy, her condition deteriorated, culminating in atrial fibrillation and death. This case underscores the importance of considering Fabry disease in young patients presenting with unexplained cardiomyopathy.

Fabry disease hypertrophic cardiomyopathy heart failure

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