Background: Anderson–Fabry disease (AFD) is a progressive lysosomal storage disorder characterized by systemic glycosphingolipid accumulation. While cardiac imaging plays a central role in disease monitoring, the relationship between structural myocardial changes and exercise capacity remains incompletely defined. This study aimed to evaluate functional impairment in AFD patients using cardiopulmonary exercise testing (CPET) and to determine whether limitations are primarily cardiac or extracardiac in origin. Methods: Thirty-one patients with genetically confirmed AFD were retrospectively enrolled from two tertiary centers. All underwent baseline clinical assessment, resting transthoracic echocardiography (TTE), spirometry, and symptom-limited CPET using a cycle ergometer and a 10 W/min ramp protocol. Echocardiographic parameters included the LVEF, global longitudinal strain (GLS), E/e′ ratio, TAPSE, and PASP. CPET measurements included the peak VO2, anaerobic threshold (AT), VE/VCO2 slope, oxygen pulse (VO2/HR), and VO2/watt ratio. Results: The mean age was 48.4 ± 17.6 years, with most patients classified as NYHA I. LVEF was preserved (62.3 ± 8.6%), and diastolic indices were within normal limits (E/e′ 7.1 ± 2.4), but GLS was impaired (11.3 ± 10.5%). CPET showed reduced peak VO2 (18.6 ± 6.1 mL/kg/min; 71.4% predicted) and early AT (40.8%), with preserved ventilatory efficiency and oxygen pulse. VO2/watt was mildly reduced, suggesting peripheral limitations despite intact central hemodynamics. Conclusions: Functional impairment is common in AFD patients, even with mild cardiac involvement. CPET reveals early systemic limitations not captured by standard imaging, supporting its role in phenotypic characterization and therapeutic decision-making.

Electrocardiogram may play a crucial role in the diagnostic workup of different cardiomyopathies. Electrocardiogram abnormalities in impulse generation and transmission may be an early marker of these insidious pathologies. Some findings are suggestive of definite disorders, and other findings are less sensitive and/or specific, but may orient towards a specific diagnosis in a patient with a peculiar phenotype. Electrocardiogram findings not only could help to early recognize affected patients but may also have an important prognostic role in evaluating disease evolution over time and identifying patients at higher risk of sudden cardiac death. Electrocardiogram reading and the careful interpretation of its features remain a cornerstone for orienting the diagnosis towards specific forms and provide useful tools for risk stratification.

The use of implantable cardiac monitors (ICMs) has gradually entered clinical practice in various fields. In addition to the consolidated indications in the study of syncope, cryptogenic stroke and in the management of patients with arrhythmias (suspected or defined), today a possible role for these devices in patients with heart failure (HF) is emerging. The rationale for the use of these devices in HF can be identified in three key areas: (i) identification of silent atrial fibrillation and reduction of the risk of stroke, (ii) stratification of the risk of brady-tachy arrhythmias and consequent reduction of the risk of sudden death, and (iii) identification of patients at risk of imminent exacerbation of HF and their early management with reduction of hospitalizations and episodes of clinical deterioration. For each of these areas, there are conflicting data regarding the real usefulness of ICMs; however, it is reasonable to hypothesize that the use of these devices, under certain conditions, may be useful in patients with HF. The adequate selection of patients to be candidates for this strategy is important. The choice of tools and the availability of an organization that allows the possibility of managing these patients remotely also play an essential role. In any case, case-control studies are needed to establish whether this tool can be truly useful in HF.

Electrocardiogram (ECG) may play a crucial role in the diagnosis of left-sided variants of desmosomal arrhythmogenic cardiomyopathies. This article discusses the most common ECG changes, such as T-wave inversion and low QRS voltages, and new ECG signs such as Q-waves, low voltages in specific leads, posterior fascicle block, and R/S ratio ≥ 0.5 in V1. In addition, ventricular arrhythmias have peculiar features in these patients. Electrocardiogram may be an early marker of this insidious cardiomyopathy and allow to avoid sudden cardiac death often in young people. Electrocardiogram abnormalities may also be indicators of disease evolution over time.

Transcatheter mitral valve interventions (TMVI), either repair or replacement, are established alternative options for patients with mitral regurgitation (MR) deemed not suitable for conventional open-heart surgery. Multi-modality imaging plays a pivotal role in the selection of patients, gaining insights into the anatomy of the mitral valve the mechanism and the severity of MR, which are essential to predict the success of these procedures. The aim of this review is to provide an overview on the role of multi-modality imaging in the patient selection and pre-procedural planning of TMVI.

Stroke is a leading cause of mortality and disability, and cardiac embolism accounts for one-third of all ischaemic strokes. Thirty per cent of strokes are cryptogenic. In this setting, echocardiography is essential in the diagnosis, treatment, and prevention of embolic stroke of undetermined source since it is a widely available, safe, and inexpensive tool. Transthoracic echocardiography and transoesophageal echocardiography, furthermore, are proven to change therapeutic management leading to initiation of anti-coagulation, anti-microbial therapy, patent foramen ovale (PFO) closure, or cardiac tumour resection. The most common cardioembolic sources include left atrial appendage thrombus, left ventricular thrombus, vegetations in endocarditis, paradoxical embolization in PFO, prosthesis thrombosis, and intracardiac tumours. Although the presence of a cardioembolic source only represents a risk factor for an ischaemic stroke, it could not assure the certain or the unique cause of the event. The purpose of this review is to underline the importance of echocardiography and overview the main sources of cardiac embolism and the echocardiographic features.

Atrial fibrillation (AF) is the most common cause of hospital admission among all arrhythmias in the general population. Moreover, AF represents the most common arrhythmia in the athletic population as well. The complex but fascinating relationship between sport and atrial fibrillation has not yet been fully clarified. Although the benefits of moderate physical activity in controlling cardiovascular risk factors and in reducing the risk of atrial fibrillation have been widely demonstrated, some concerns have been raised about the potential adverse effects of physical activity. Endurance activity in middle-aged men athletes appears to increase the risk of AF. Several different physiopathological mechanisms may explain the increased risk of AF in endurance athletes, including the imbalance of the autonomic nervous system, changes in left atrial size and function and presence of atrial fibrosis. The goal of this article is to review the epidemiology, pathophysiology and clinical management for AF in athletes, including pharmacological and electrophysiological strategies.

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient a-galactosidase A activity that leads to an accumulation of glycolipids, mainly globotriaosylceramide (Gb3) and globotriaosylsphingosine, in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy (LVH), myocardial fibrosis, heart failure, and arrhythmias, which limit the quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential in slowing down the disease progression and preventing major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of cardiac damage. FD cardiomyopathy is characterized by an earlier stage of glycosphingolipid accumulation and a later one of hypertrophy. Morphological and functional aspects are not specific in the echocardiographic evaluation of Anderson-Fabry disease. Cardiac magnetic resonance with tissue characterization capability is an accurate technique for the differential diagnosis of LVH. Progress in imaging techniques has improved the diagnosis and staging of FD-related cardiac disease: a decreased myocardial T1 value is specific of FD. Late gadolinium enhancement is typical of the later stage of cardiac involvement but as in other cardiomyopathy is also valuable to predict the outcome and cardiac response to therapy.

Drug-eluting stents (DES) compared with bare-metal stents, reduce the rate of repeat revascularization [ [1] Stettler C. Wandel S. Allemann S. et al. Outcomes associated with drug-eluting and bare-metal stents: a collaborative network meta-analysis. Lancet. 2007; 370: 937-948 Abstract Full Text Full Text PDF PubMed Scopus (1283) Google Scholar ]. However, first-generation DES are associated with an increased risk of late stent thrombosis [ [2] Finn A.V. Joner M. Nakazawa G. et al. Pathological correlates of late drug-eluting stent thrombosis: strut coverage as a marker of endothelialization. Circulation. May 8 2007; 115: 2435-2441 Crossref PubMed Scopus (1140) Google Scholar ]. Several studies compared BES with PES and SES [ 3 Stefanini G.G. Kalesan B. Serruys P.W. et al. Long-term clinical outcomes of biodegradable polymer biolimus-eluting stents versus durable polymer sirolimus-eluting stents in patients with coronary artery disease (LEADERS): 4 year follow-up of a randomised non-inferiority trial. Lancet. Dec 3 2011; 378: 1940-1948 Abstract Full Text Full Text PDF PubMed Scopus (306) Google Scholar , 4 Byrne R.A. Kastrati A. Massberg S. et al. Biodegradable polymer versus permanent polymer drug-eluting stents and everolimus- versus sirolimus-eluting stents in patients with coronary artery disease: 3-year outcomes from a randomized clinical trial. J Am Coll Cardiol. Sep 20 2011; 58: 1325-1331 Abstract Full Text Full Text PDF PubMed Scopus (131) Google Scholar ] and with EES with different results [ 5 Smits P.C. Hofma S. Togni M. et al. Abluminal biodegradable polymer biolimus-eluting stent versus durable polymer everolimus-eluting stent (COMPARE II): a randomised, controlled, non-inferiority trial. Lancet. Feb 23 2013; 381: 651-660 Abstract Full Text Full Text PDF PubMed Scopus (246) Google Scholar , 6 Christiansen E.H. Jensen L.O. Thayssen P. et al. Biolimus-eluting biodegradable polymer-coated stent versus durable polymer-coated sirolimus-eluting stent in unselected patients receiving percutaneous coronary intervention (SORT OUT V): a randomised non-inferiority trial. Lancet. Feb 23 2013; 381: 661-669 Abstract Full Text Full Text PDF PubMed Scopus (165) Google Scholar ]. Our purpose was to compare BES versus EES and ZES in a large real-world registry. RUDI 2 was a retrospective, observational, multicenter registry. Out of all population treated with DES, the study included all patients who implanted BES, EES and R-ZES at 4 high-volume centers between November 2008 and November 2011. From a total of 3505 initially shortlisted patients and excluding 295 subjects receiving a mixture of BES, EES or R-ZES, and 71 patients lost to follow-up, a total of 3139 subjects were included. Patients who received BES were 818 (26.1%), 1433 (45.7%) EES and 888 (28.3%) R-ZES. Baseline, procedural and long-term (>12 months) outcome data were entered into a prospectively maintained database. The primary end-point was the long-term rate of major adverse cardiac events (MACE). Moreover, we evaluated the incidence of bleeding according to TIMI classification. Secondary end-points were the rate of stent thrombosis. Information about short-term outcomes was obtained by records review. Clinical follow-up was achieved by phone call and/or direct visit and there was an independent event committee for event's adjudication. Computations were performed with SPSS 20. Differences between continuous variables were analyzed with ANOVA or Kruskal–Wallis test for non-parametric data. Differences between categorical variables were analyzed with the chi-squared test.

Objectives The aim of this study is to assess the efficacy of the high-dose rosuvastatin preadministration in reducing periprocedural myocardial necrosis and major adverse cardiovascular and cerebrovascular events (MACCE) in patients undergoing elective percutaneous coronary intervention (PCI). Background Elective PCI may be complicated with an elevation of cardiac biomarkers. Several studies suggested that pretreatment with statins may be associated with a reduction in periprocedural myocardial necrosis. Methods One hundred and sixty patients with stable angina who underwent elective PCI were randomly assigned to receive either a preprocedural loading dose (40 mg) of rosuvastatin group (RG, n = 80) or a standard treatment [control group (CG), n = 80].The primary endpoint was the incidence of periprocedural myocardial necrosis. The secondary endpoint was the assessment of MACCE [cardiac death, all-myocardial infarction (MI), stroke, and target vessel revascularization (TVR)] at a 30-day and 12-month follow-up, as well as the rate of periprocedural rise of Troponin T-serum levels >3x upper limit of normal. Results Twelve and 24-hr post-PCI creatinine kinase MB isoform elevation >3x occurred more frequently in the CG than in the RG (22.7 vs. 7.1; P = 0.034 and 26.4 vs. 8.7; P = 0.003). At the 30-day and 12-month follow-up, the incidence of cumulative MACCE was higher in CG than in the RG (30.0% vs. 8.7%; P = 0.001 and 35.0% vs. 12.5%; P = 0.001).The difference between the groups was mainly due to the periprocedural MI incidence (26.4% vs. 8.7%; P = 0.003).The rate of cardiac death, spontaneous MI, TVR, and stroke were similar in the two groups. Conclusions High loading dose of rosuvastatin within 24 hr before elective PCI seems to decrease the incidence of periprocedural myocardial necrosis during a period of 12-months compared to the standard treatment. (c) 2012 Wiley Periodicals, Inc.

We describe a rare case of cardiac multichamber thrombosis in a young woman admitted with heart failure and atrial fibrillation, who was later found to have reversible postpartum thyrotoxic cardiomyopathy. A transoesophageal echocardiogram demonstrated a patent foramen ovalis with an over-riding thrombus. The clinical scenario was complicated by a cardioembolic stroke upon spontaneous restoration of sinus rhythm.

Conventionally, ischemic heart disease (IHD) is equated with large vessel coronary disease. However, recent evidence has suggested a role of compromised microvascular regulation in the etiology of IHD. Because regulation of coronary blood flow likely involves activity of specific ion channels, and key factors involved in endothelium-dependent dilation, we proposed that genetic anomalies of ion channels or specific endothelial regulators may underlie coronary microvascular disease. We aimed to evaluate the clinical impact of single-nucleotide polymorphisms in genes encoding for ion channels expressed in the coronary vasculature and the possible correlation with IHD resulting from microvascular dysfunction. 242 consecutive patients who were candidates for coronary angiography were enrolled. A prospective, observational, single-center study was conducted, analyzing genetic polymorphisms relative to (1) NOS3 encoding for endothelial nitric oxide synthase (eNOS); (2) ATP2A2 encoding for the Ca2+/H+-ATPase pump (SERCA); (3) SCN5A encoding for the voltage-dependent Na+ channel (Nav1.5); (4) KCNJ8 and KCNJ11 encoding for the Kir6.1 and Kir6.2 subunits of K-ATP channels, respectively; and (5) KCN5A encoding for the voltage-gated K+ channel (Kv1.5). No significant associations between clinical IHD manifestations and polymorphisms for SERCA, Kir6.1, and Kv1.5 were observed (p > 0.05), whereas specific polymorphisms detected in eNOS, as well as in Kir6.2 and Nav1.5 were found to be correlated with IHD and microvascular dysfunction. Interestingly, genetic polymorphisms for ion channels seem to have an important clinical impact influencing the susceptibility for microvascular dysfunction and IHD, independent of the presence of classic cardiovascular risk factors.

We report a clinical case of a 45-year-old male with a diagnosis of inferior myocardial infarction and previous history of rheumatic fever during his childhood. Coronary angiography demonstrated normal coronary arteries. Transthoracic echocardiogram showed hypokinetic left ventricular inferolateral wall and mitral stenosis; furthermore, speckle tracking analysis revealed reduction of global longitudinal strain involving the inferior wall. A three-dimensional transesophaegeal echocardiography, performed to better characterize the anatomy of the valve and to find possible source of embolic infarct in an enlarged left atrium, showed rheumatic valvular involvement. Cardiac magnetic resonance confirmed the ischemic damage and also provided prognostic information. A multimodality imaging approach should be mandatory in patients with acute myocardial infarction and normal coronary angiography, to define possible sources of embolic infarction and to quantify myocardial damage.

OBJECTIVES:The objective of this study is to compare a reloading dose of Rosuvastatin and Atorvastatin administered within 24 h before coronary angioplasty (PCI) in reducing the rate of periprocedural myonecrosis and major cardiac and cerebrovascular events (MACCE) in patients on chronic statin treatment undergoing elective PCI. BACKGROUND:Elective PCI may be complicated with elevation of cardiac biomarkers. Several studies suggested that pretreatment with statins may be associated with a reduction in periprocedural myocardial necrosis. METHODS:Three hundred and fifty patients with stable angina who underwent elective PCI were randomly assigned to receive a pre-procedural reloading dose of Rosuvastatin (40 mg) (Rosuvastatin Group-RG n=175) or Atorvastatin (80 mg) (Atorvastatin Group-AG n=175) and a control group on chronic statin therapy without reloading (Control-Group-CG). The primary end-point was periprocedural myocardial necrosis and the occurrence of MACCE at 30-day,6-12 month follow-up. Also we evaluate the rise of periprocedural Troponin T serum levels >3× the upper limit of normal. RESULTS:Twelve and 24-hour post-PCI Creatine Kinase Muscle and Brain (CK-MB) elevation >3× occurred more frequently in the CG than in the RG and in the AG (at 24-h: 25.0 vs 7.1; p=0.003 and 25.0 vs 6.1; p=0.001). At 30-day, 6-and 12-month follow-up the incidence of cumulative MACCE was higher in CG than in the RG or AG (at 12-month: 41.0% vs 11.4% vs 12.0%; p=0.001). There was no difference between the RG and AG in terms of myocardial post-procedural necrosis and MACCE occurrence at follow-up. CONCLUSIONS:High-dose statin reloading improves procedural and long term clinical outcomes in stable patients on chronic statin therapy. Both Rosuvastatin and Atorvastatin showed similar beneficial effects on procedural and long-term outcomes.

AIMS:To assess the prevalence of anemia and iron deficiency anemia in heart failure (HF) patients, to evaluate the effectiveness of current iron deficiency treatment strategies after discharge, and to analyze hospital readmissions and mortality rates in patients with and without anemia.PATIENTS & METHODS:A patient registry-based, multicenter, retrospective, observational, cohort study of 418 hospitalized HF patients in Italy, monitored from 1 March 2010 to 30 March 2011.RESULTS:Among patients with HF, 35.9% had anemia at admission; only 51.3% were treated with current iron deficiency treatment strategies during hospitalization and then only 29% of patients who were anemic at discharge were treated with iron at home. After a 4-week follow-up, only 11% of these patients reached the hemoglobin target value (study primary end point). However, current iron deficiency treatment strategies were not significantly associated with reduced risk of rehospitalization, but with a significantly reduced mortality rate after a 6-month follow-up (study secondary end points: 11.7 vs 51.7%; p < 0.0001).CONCLUSION:In HF patients, there is poor attention paid to anemia, its causes and treatment. Current iron deficiency treatment strategies are mismanaged and CARMES-1 demonstrated that they appear to be insufficient at improving patient outcome in terms of rehospitalization rate reduction, generating high costs, which could be avoided through an optimized treatment strategy. Therefore, more efficacious, efficient and cost-effective treatment strategies are required in Italy for HF patients with iron deficiency anemia to meet this unmet medical need.

Global and regional longitudinal strain (GLSRLS) assessed by two-dimensional speckle tracking echocardiography (2D-STE) are considered reliable indexes of left-ventricular (LV) function and myocardial viability in chronic ischaemic patients when compared with delayed-enhanced cardiac magnetic resonance (DE-CMR). In the present study, we tested whether GLS and RLS could also identify early myocardial dysfunction and transmural extent of myocardial scar in patients with acute ST elevation myocardial infarction (STEMI) and relatively preserved LV function. Twenty STEMI patients with LVEF 40, treated with PPCI within 6 h from symptoms onset, underwent DE-CMR and 2D-echocardiography for 2D-STE analysis 6 2 days after STEMI. Wall motion score index (WMSI) and LV ejection fraction (LVEF) were calculated by both methods. Infarct size and transmural extent of necrosis were assessed by CMR. GLS and RLS were obtained by 2D-STE. Mean GLS of the study population was 14 3.3, showing a significant correlation with both LVEF and WMSI, by CMR (r 0.86, P 0.001, and r 0.80, P 0.001, respectively) and time-to-PCI (r 0.66, P 0.038). A weaker correlation was found between GLS and LVEF and WMSI assessed by 2D-echo (r 0.65, P 0.001, and r 0.53, P 0.013, respectively). RLS was significantly lower in DE-segments when compared with normal myocardium (P 0.0001). A cut-off value of RLS of 12.3 by receiver-operating characteristic (ROC) curves identified DE-segments (sensitivity 82, specificity 78), whereas a cut-off value of 11.5 identified transmural extent of DE (sensitivity 75, specificity 78). Our findings indicate that RLS and GLS evaluation provides an accurate assessment of global myocardial function and of the presence of segments with transmural extent of necrosis, with several potential clinical implications.

AIMSThere is conflicting evidence on the impact of gender on reperfusion after primary coronary angioplasty (PPCI), and on left ventricular (LV) remodelling (LVR). In a cohort of patients with reperfused ST elevation myocardial infarction (STEMI), gender-related differences on myocardial reperfusion, and sex-related differences on LVR were assessed by using a comprehensive cardiac magnetic resonance (CMR) approach.METHODS AND RESULTSIn four tertiary referral centres, 283 (238 males and 45 females) consecutive STEMI patients, treated with PPCI within 12 h from symptoms onset underwent CMR 3 ± 2 days after STEMI and at 4-month follow-up. By CMR, the area at risk, infarct size (IS), microvascular obstruction (MVO), and myocardial salvage index (MSI) were assessed. Women were older than men (P = 0.014), more hypertensive (P < 0.001) and more frequently presented with pre-infarct angina (P = 0.018). An MSI extent was significantly higher (P = 0.013), IS was significantly smaller at both time points (acute P < 0.001, follow-up P < 0.001), and the MVO extent was significantly smaller (P < 0.001) in women. At multivariate analysis, Killip class and female sex were independently associated with a higher MSI (P = 0.02, P = 0.05, respectively). A similar incidence of LVR in both sexes was observed at follow-up (P = 0.808).CONCLUSIONSThe better reperfusion pattern observed in women by CMR in our population of reperfused STEMI suggests sex-based differences exist. No gender differences were observed with respect to incidence of LV remodelling at the follow-up mainly occurring in the subset of patients with a larger IS.