Fabry disease: A clinical case with literature review

Fabry disease is a rare genetic disorder related to lipid metabolism, caused by a deficiency in alpha-galactosidase A, a lysosomal enzyme. This deficiency leads to the accumulation of globotriaosylceramide in various tissues of the body, causing a variety of symptoms affecting several organ systems, particularly the cardiovascular system. The diagnosis is mainly clinical and should be suspected in the presence of a relevant personal and/or family history; it is confirmed by measuring enzymatic activity in leucocytes or through molecular testing. Management is multidisciplinary and involves symptomatic treatment and specific therapy, resulting in improvements in both survival and quality of life for affected individuals. We present the case of a 42-year-old patient with global heart failure as part of Fabry disease. This clinical case offers an opportunity to review the literature on cardiac involvement related to this condition and the particularities of the cardiac variant