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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Main Authors: | , , , , , , , |
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Format: | Book |
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Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications,
2021-11-04.
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Online Access: | Connect to this object online. |
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Summary: | <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> |
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DOI: | 10.17352/2455-2976.000173 |