Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH).

Early cardiovascular remodelling in Fabry disease

Buccheri, Sergio;Capranzano, Piera;Di Pino, Luigi;RODOLICO, MARGHERITA STEFANIA;LEGGIO, STEFANO;BLUNDO, ANITA;Tamburino, Corrado;Monte, Ines
Ultimo
Writing – Review & Editing
2014-01-01

Abstract

Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH).
2014
Adult; Body Mass Index; Cardiovascular Diseases; Carotid Intima-Media Thickness; Case-Control Studies; DNA Mutational Analysis; Echocardiography; Fabry Disease; Female; Heterozygote; Humans; Hypertrophy, Left Ventricular; Male; Microcirculation; Microscopic Angioscopy; Middle Aged; Mutation; Risk; Ultrasonography; Ventricular Remodeling
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/358834
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