Abstract

    Open Access Short Communication Article ID: JCMC-8-273

    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 and Franco Cecchi

    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:

    Published on: Nov 4, 2021 Pages: 69-71

    Full Text PDF Full Text HTML DOI: 10.17352/2455-2976.000173
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