Gender differences in Anderson-Fabry disease: analysis of cardiac phenotype in women at a multidisciplinary reference center

Background: Anderson-Fabry Disease (AFD), a rare multisystemic lysosomal storage disease, is caused by GLA gene mutation leading to ?-galactosidase A (?-Gal A) deficiency. AFD exhibits an X-linked inheritance pattern, with a more pronounced and early-onset phenotype in males. The phenotypic manifestation in females is variable due to cellular mosaicism resulting from lyonization of the X chromosome, insidious and potentially severe, particularly with regard to cardiac involvement.Objective: To assess the differences in cardiac manifestations of AFD in women (F) versus men (M), in relation to the type of mutation involved: classical (CL), late-onset [LO] or variants of uncertain significance [VUS]).