Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation

At histological examination, ventricular and atrial cardiomyocytes ( panel B ) presented scattered perinuclear vacuoles that at transmission electron microscopy, consisted of lamellar structures in single-membrane-bound vesicles indicative of lysosomal glycosphyngolipid accumulation and thus of Fabry disease. 2 The diagnosis was confirmed by the detection of low level of α-galactosidase A activity in the peripheral leucocytes (22.5±5.4 nmol h-1 mg-1, 2.5% of normal control) and the presence of the causal α-galactosidase A gene mutation (N215S).