A Rare Case of Fabry’s Disease-Induced Cardiomyopathy: A Case Report and Review of the Literature

Fabry's disease, also known as Anderson-Fabry Disease (AFD), is caused by mutations in the α galactosidase A (α GalA) gene found on the X chromosome. This condition results in an accumulation of sphingolipids, including globotriaosylceramide (Gb3), in cells throughout the body. The main effects of Fabry disease typically involve heart, kidney, and nervous system complications. A common cardiac dysfunction is left ventricular hypertrophy. In this case study, we share findings about cardiomyopathy resulting from Fabry disease to explain how this condition impacts the heart and the importance of a biopsy in making a diagnosis. A 57-year-old woman with end-stage renal disease likely attributed to hypertension was evaluated for a kidney transplant. An echocardiogram revealed severe ventricular hypertrophy. The clinical team ordered blood levels of alpha-galactosidase, globotriaosylceramide, and globotriaosylsphingosine enzymes, which demonstrated significant deficiency. Consequently, a genetic test along with an endomyocardial biopsy (EMB) was ordered. Under microscopy using hematoxylin and eosin stain (H/E) and periodic acid Schiff stain (PAS), myocyte vacuolization was observed, which remained unchanged when diastase was added. Electron microscopy revealed inclusion bodies described as myeloid and curvilinear bodies within cells, interstitial cells, and cardiomyocytes. Diagnosing Fabry disease can be challenging, as it may be confused with other medical conditions. Our case study showed how EMB played a role in diagnosing the disease and guiding proper treatment.