Early cardiovascular remodelling in Fabry disease

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.