Aims 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). Methods and results This study includes subjects carrying genetic 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 cardiovascular risk factors were also included. All subjects underwent echocardiography, carotid ultrasound scan, endothelial flow-mediated dilatation (FMD) and nailfold capillaroscopy (NFC) assessment. When compared to the subjects in the control group, FDMC patients showed significantly lower mean 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), significantly higher 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), significantly lower FMD (8.3±4.6 vs. 12.2±5.0 %, p=0.02), more atypical capillaries and irregular NFC architecture in FDMC than control subjects (52.6 vs. 0 %, p<0.0001; 78.9 vs. 36.8 %, p=0.02 respectively). Conclusions FD progressively involves cardiac, macrovascular and microvascular systems in an early stage. These features are present even in asymptomatic mutation carriers without LVH.
|Titolo:||Early cardiovascular remodelling in Fabry disease|
|Autori interni:||MONTE, INES PAOLA|
DI PINO, Luigi
|Data di pubblicazione:||2013|
|Rivista:||JOURNAL OF INHERITED METABOLIC DISEASE|
|Appare nelle tipologie:||1.1 Articolo in rivista|