Global Heart Failure Decompensation Revealing Fabry Disease: A Case Report

Abstract

Background: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in deficient activity of α-galactosidase A and subsequent accumulation of globotriaosylceramide (Gb3) in multiple organs. Cardiac involvement may mimic hypertrophic cardiomyopathy (HCM) or amyloidosis, leading to delayed recognition. Case Presentation: We report a 67-year-old man with a history of complete atrioventricular block requiring pacemaker implantation, who was admitted with global heart failure decompensation. Echocardiography revealed concentric left ventricular hypertrophy and reduced ejection fraction. Coronary angiography was normal, and an extensive workup for amyloidosis was negative. Enzymatic assay confirmed markedly reduced α-galactosidase A activity, establishing Fabry disease diagnosis. Genetic testing and cardiac magnetic resonance imaging (CMR) were scheduled. The patient was referred for enzyme replacement therapy (ERT). Conclusion: This case emphasizes the importance of considering Fabry disease in elderly patients with unexplained LVH, especially after amyloidosis exclusion. Early diagnosis, timely initiation of ERT or chaperone therapy, and systematic family screening are essential to improve outcomes.