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

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

Open Access

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

Author(s) -

Sergio Caravita,

Ilaria Tanini,

Lia Crotti,

Claudia Baratto,

Gianfranco Parati,

Francesco Fattirolli,

Iacopo Olivotto,

Franco Cecchi

Publication year - 2021

Publication title -

journal of cardiovascular medicine and cardiology

Language(s) - English

Resource type - Journals

ISSN - 2455-2976

DOI - 10.17352/2455-2976.000173

Subject(s) - medicine , cardiology , fabry disease , ventricular outflow tract obstruction , left ventricular hypertrophy , disease , genetic disorder , muscle hypertrophy , hypertrophic cardiomyopathy , blood pressure

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].

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