title: Early cardiovascular remodelling in Fabry disease.
abstract: OBJECTIVE
  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).
  
  
  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.
authors.affiliation: Department of "Medical and Pediatric Sciences", University of Catania, Catania, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Costanzo
authors.forename: Sergio
authors.initials: S
authors.lastname: Buccheri
authors.forename: Piera
authors.initials: P
authors.lastname: Capranzano
authors.forename: Luigi
authors.initials: L
authors.lastname: Di Pino
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Curatolo
authors.forename: Margherita
authors.initials: M
authors.lastname: Rodolico
authors.forename: Stefano
authors.initials: S
authors.lastname: Leggio
authors.forename: Anita
authors.initials: A
authors.lastname: Blundo
authors.forename: Corrado
authors.initials: C
authors.lastname: Tamburino
authors.forename: Ines
authors.initials: I
authors.lastname: Monte
mesh_terms: D000328:Adult; D015992:Body Mass Index; D002318:Cardiovascular Diseases / Q000150:complications / Q000503:physiopathology*; D059168:Carotid Intima-Media Thickness; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004452:Echocardiography; D000795:Fabry Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis; D008297:Male; D008833:Microcirculation; D020678:Microscopic Angioscopy; D008875:Middle Aged; D009154:Mutation; D012306:Risk; D014463:Ultrasonography; D020257:Ventricular Remodeling