Early cardiovascular remodelling in Fabry disease (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Early cardiovascular remodelling in Fabry disease (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1007/s10545-013-9607-1 (literal)

Alternative label

• Costanzo L.; Buccheri S.; Capranzano P.; Di Pino L.; Curatolo G.; Rodolico M.; Leggio S.; Blundo A.; Tamburino C.; Monte I. (2014)
  Early cardiovascular remodelling in Fabry disease
  in Journal of inherited metabolic disease (Dordr., Online)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Costanzo L.; Buccheri S.; Capranzano P.; Di Pino L.; Curatolo G.; Rodolico M.; Leggio S.; Blundo A.; Tamburino C.; Monte I. (literal)

Pagina inizio

• 109 (literal)

Pagina fine

• 116 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.scopus.com/inward/record.url?eid=2-s2.0-84891831148&partnerID=q2rCbXpz (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 37 (literal)

Rivista

• Journal of inherited metabolic disease (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 1 (literal)

Note

• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy; CNR, Catania, Italy; Ecocardiografia Clinica, A.O.U. Policlinico Vittorio Emanuele, Presidio Gaspare Rodolico, Via Santa Sofia 78, 95100 Catania, Italy (literal)

Titolo

• Early cardiovascular remodelling in Fabry disease (literal)

Abstract

• Aims: Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal ?-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. © 2013 SSIEM and Springer Science+Business Media Dordrecht. (literal)

Prodotto di

• Institute of neurological sciences (ISN) (Istituto)

Autore CNR

• MARGHERITA STEFANIA RODOLICO (Unità di personale interno)

Incoming links:

Prodotto

• Institute of neurological sciences (ISN) (Istituto)

Autore CNR di

• MARGHERITA STEFANIA RODOLICO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Journal of inherited metabolic disease (Rivista)