Aims Fabry disease (FD) is a rare X-linked genetic disordercaused by the deficiency or absent activity of lysosomal α-galactosidase A. Cardiovascular remodelling is a hallmarkof FD. The present study aimed to comprehensively evaluatethe cardiac, vascular and microvascular status in a populationof patients with genetic mutations for FD withoutleft ventricular hypertrophy (LVH).Methods and results This study includes subjects carryinggenetic mutations for FD (Fabry disease mutation-carrier,FDMC) without LVH (n=19). A group of control subjects(n=19) matched for age, sex, body mass index and cardiovascularrisk factors were also included. All subjects underwentechocardiography, carotid ultrasound scan, endothelialflow-mediated dilatation (FMD) and nailfold capillaroscopy(NFC) assessment. When compared to the subjects in thecontrol group, FDMC patients showed significantly lowermean values of systolic myocardial velocity (7.33±1.28 vs.10.08±1.63 cm/s, p<0.0001), longitudinal systolic strain(−18.07±1.72 vs. −21.15±2.22 %, p<0.0001), significantlyhigher E/E’ mean values (7.15±1.54 vs. 5.98±1.27,p=0.016) and intima-media thickness mean values(0.80±0.20 vs. 0.61±0.19 mm, p=0.005), significantlylower FMD (8.3±4.6 vs. 12.2±5.0 %, p=0.02), moreatypical capillaries and irregular NFC architecture inFDMC than control subjects (52.6 vs. 0 %, p<0.0001;78.9 vs. 36.8 %, p=0.02 respectively).Conclusions FD progressively involves cardiac, macrovascularand microvascular systems in an early stage. Thesefeatures are present even in asymptomatic mutation carrierswithout LVH.
|Titolo:||Early cardiovascular remodelling in Fabry disease|
|Data di pubblicazione:||2013|
|Citazione:||Early cardiovascular remodelling in Fabry disease / Costanzo L; Buccheri S; Capranzano P; Di Pino L; Curatolo G; Rodolico M; Leggio S; Blundo A; Tamburino C; Monte I. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 4(2013).|
|Appare nelle tipologie:||1.1 Articolo in rivista|