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Impaired cardiopulmonary test performance as a marker of early functional impairment in patients with Anderson-Fabry disease

Sergio Caravita, Ilaria Tanini, Lia Crotti, Claudia Baratto, Gianfranco Parati, Francesco Fattirolli, Iacopo Olivotto, Franco Cecchi

Abstract: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disease characterized by progressive glicosphingolipid accumulation in multiple organs, due to α-galactosidase a deficiency [1]. It is considered a rare disease although newborn genetic screening showed non-negligible prevalence (∼1:3.900) [1]. Cardiac manifestations include progressive Left Ventricular (LV) Hypertrophy (LVH), which may be extreme and provoke both reduced stroke volume and dynamic LV outflow tract obstruction [2-6].
Keywords: impairment / extreme / functional / Anderson Fabry disease / glicosphingolipid accumulation

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