Early cardiovascular remodelling in Fabry disease

• DOI: 10.1007/s10545-013-9607-1
• Publication Date: 2013-05-01T03:17:42Z
• Authors: Luca Costanzo; Sergio Buccheri; Piera Capranzano; Luigi Di Pino; Giuseppina Curatolo; Margherita Rodolico; Stefano Leggio; Anita Blundo; Corrado Tamburino; Ines Monte
• Keywords: Adult; Male; Risk; Heterozygote; DNA Mutational Analysis; Carotid ultrasound scan; Carotid Intima-Media Thickness; Body Mass Index; Microscopic Angioscopy; 03 medical and health sciences; 0302 clinical medicine; Humans; Ultrasonography; Fabry disease; Ventricular Remodeling; Microcirculation; Middle Aged; 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; 3. Good health; Endothelial flow-mediated dilatation; Cardiovascular Diseases; Echocardiography; Case-Control Studies; Mutation; Nailfold capillaroscopy; Fabry Disease; Female; Hypertrophy, Left Ventricular

AbstractAimsFabry 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 resultsThis 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).ConclusionsFD progressively involves cardiac, macrovascular and microvascular systems in an early stage. These features are present even in asymptomatic mutation carriers without LVH.