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Publications (4)12.37 Total impact

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    ABSTRACT: 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.
    Journal of Inherited Metabolic Disease 04/2013; · 4.07 Impact Factor
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    ABSTRACT: Iron-mediated cardiomyopathy is the leading cause of death in patients with thalassemia major (TM). The identification of subclinical cardiac involvement in the early phases of the disease is important to optimize therapeutic strategies. The aim of this study was to identify early markers of cardiac dysfunction through new parameters of cardiac rotational dynamics and to look for a relationship with parameters of iron overload. Twenty-seven asymptomatic patients with TM and 27 healthy control subjects were prospectively enrolled. All subjects underwent standard echocardiography and subsequent offline analysis to assess left ventricular (LV) rotation and longitudinal mechanics using speckle-tracking echocardiography. In all patients with TM, ferritin levels were measured, and a subgroup underwent cardiac magnetic resonance imaging. All subjects had normal parameters of cardiac function, although patients with TM showed significantly lower S' values (P = .030) and E' values (P = .025), with increased E/E' ratio (P = .003) and indexed left atrial volumes (P = .022). Compared with controls, patients with TM had significantly reduced systolic apical rotation (P = .006), LV twist (P = .002), and LV torsion (P = .001). Systolic and diastolic rotational peak velocities at the apical level were also significantly decreased in the TM group (P = .003 and P = .011, respectively) with reductions of twisting and untwisting rates (P = .003 and P = .001, respectively). Patients with TM also showed a significant reduction of longitudinal displacement from the two-chamber apical view (P = .042) but preserved longitudinal strain and strain rate. Patients with T2* values > 20 msec had preserved rotational function, while those with T2* values < 20 msec showed significantly lower mean values of LV peak basal systolic rotation (-3.1 ± 1.4° vs -6.2 ± 2.6°, P = .016), LV peak apical systolic rotation (3.4 ± 1.3° vs 6.4 ± 3.1°, P = .045), LV twist (4.8 ± 2.5° vs 10.9 ± 4.9°, P = .012), and LV torsion (0.6 ± 0.2°/cm vs 1.4 ± 1.6°/cm, P = .010). LV torsion was negatively related to ferritin levels (r = -0.47, P = .013) and directly to T2* values (r = 0.64, P = .007). LV rotational dynamics in asymptomatic patients with TM are negatively related to iron overload. Rotational function of the left ventricle is preserved in patients with normal T2* values. These new parameters are useful for an early diagnosis of cardiac involvement.
    Journal of the American Society of Echocardiography: official publication of the American Society of Echocardiography 08/2012; 25(10):1083-90. · 2.98 Impact Factor
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    ABSTRACT: In the drug-eluting stent (DES) era, diabetes mellitus is still associated with poor clinical and angiographic outcome after PCI. Whether this phenomenon is exacerbated in the setting of acute coronary syndromes (ACS) is unclear. We investigated the long-term interaction of diabetes mellitus and clinical presentation in patients treated with percutaneous coronary intervention (PCI). Consecutive patients undergoing PCI and DES implantation were retrospectively analyzed. The 3-year composite of death, non-fatal myocardial infarction (MI) or target vessel revascularization (TVR) was assessed. Four subgroups of patients were identified: diabetes mellitus and ACS (n = 302); diabetes mellitus and no-ACS (n = 191); no-diabetes mellitus and ACS (n = 573); no-diabetes mellitus and no-ACS (n = 396). Compared to non-diabetes mellitus, diabetes mellitus patients experienced higher 3-year rates of death, non-fatal MI or TVR (32.3 vs. 21.9%, P < 0.001). Diabetes mellitus was significantly associated with the composite of death, non-fatal MI or TVR in the no-ACS group [adjusted hazard ratio (AHR) 1.307, 95% confidence interval (CI) 1.090-1.566, P = 0.004] and, albeit to a lesser extent, in the ACS group (AHR 1.177, 95% CI 1.006-1.377, P = 0.041). No statistically significant interaction was observed between diabetes mellitus and clinical presentation (P for interaction = 0.802). No significant interaction between diabetes mellitus and clinical presentation was noted in this study. The high rates of cardiac events observed in diabetes mellitus patients despite recent advances in interventional techniques outline the need for a multidisciplinary approach in the management of diabetes mellitus patients, including optimization of glycemic control, aggressive medical therapy and more complete coronary revascularization.
    Journal of Cardiovascular Medicine 02/2011; 12(6):405-10. · 2.66 Impact Factor
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    ABSTRACT: Several studies showed that small vessel diameter is a determinant of increased risk of adverse events after stenting. The efficacy of different drug-eluting stent types implanted in small vessels has still not been established. The aim of the present observational study was to compare long-term clinical outcomes after sirolimus-eluting stent (SES) or paclitaxel-eluting stent (PES) implantation in lesions located in small coronary vessels. For the purpose of this analysis patients undergoing SES or PES implantation in vessels with diameter 2.5 mm or less, from May 2002 to December 2006, were included. Long-term rates of major adverse cardiac events were evaluated and compared between the two groups. Independent predictors of major adverse cardiac events were also investigated. A total of 336 patients were included, 225 were treated only with SES and 111 only with PES. During a mean follow-up of 23.3 +/- 12.1 months the major adverse cardiac events rates were 12.8 versus 13.6%, P = 0.98 in SES versus PES groups, respectively. The rates of target lesion revascularization (8.0 versus 6.3%, P = 0.75), mortality (3.5 versus 4.5%, P = 0.88) and myocardial infarction (2.6 versus 4.5%, P = 0.41) were similar between SES and PES, respectively. The overall thrombosis rate was also not significantly different in SES and PES groups (1.3% SES versus 4.5% PES, P = 0.12). In this study SES and PES provided similar long-term results after treatment of lesions in small vessels. Nevertheless, larger randomized studies are needed to confirm these findings.
    Journal of Cardiovascular Medicine 02/2010; 11(5):365-8. · 2.66 Impact Factor