Open AccessImpaired 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].