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

<p>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...

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Príomhchruthaitheoirí: Sergio Caravita (Údar), Ilaria Tanini (Údar), Lia Crotti (Údar), Claudia Baratto (Údar), Gianfranco Parati (Údar), Francesco Fattirolli (Údar), Iacopo Olivotto (Údar), Franco Cecchi (Údar)
Formáid: LEABHAR
Foilsithe / Cruthaithe: Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications, 2021-11-04.
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Achoimre:<p>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]. </p>
DOI:10.17352/2455-2976.000173

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