Abstract Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) in tissues such as the heart, kidneys, and the nervous system. This study reports a case series of patients with FD, highlighting the phenotypic diversity of the disease, which can be confused with other cardiological conditions. When properly indicated, genetic evaluation, combined with biomarker dosage and α-galactosidase enzymatic activity, is key for an accurate […]

Abstract Background Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetically inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that cause adverse cardiac outcomes. Objectives To investigate the demographic, clinical, biochemical, electrocardiographic (ECG), and echocardiographic (ECHO) differences between HCM and FD. Methods 60 HCM and 40 FD patients were analyzed retrospectively as a subanalysis of the ‘LVH-TR study’ after excluding patients with atrial fibrillation, pace rhythm, bundle branch blocks, and second and third-degree atrioventricular (AV) blocks. The significance level […]

Fabry Disease Fabry’s disease FD is a genetic, lysosomal storage disorder caused by total or partial alpha-galactosidase (α-Gal A) deficiency of the enzyme that degrades glycolipid globotriaosylceramide (Gb3) in lysosomes. Therefore Gb3 deposits accumulate in the endothelial cells and heart, resulting in organic dysfunction. The gene that causes FD is located in the long arm of the X chromosome (locus Xq22) and currently hundreds of pathogenic mutations have been described. Thus, male homozygous patients develop the classic disease, while female […]