Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature.

The article presents a case study of a 49-year-old woman with a diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) established 6 years before and complained of dyspnea with moderate exertion. It mentions the findings of Fabry disease (FD) through diagnosis which is a X-linked genetic disease caused by mutations in the GLA gene, and encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.