The treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat. Since few data are available on the ...effects of switching from ERT to migalastat, we performed a single-center observational study on seven male Fabry patients (18-66 years) to assess the effects of the switch on renal, cardiac, and neurologic function, health status, pain, lyso-Gb3, α-Gal A activity and adverse effects. Data were retrospectively collected at time of diagnosis of FD (baseline, T0), and after 12 months of ERT (T1), and prospectively after 1 year of therapy with migalastat (T2). No patient died or reported renal, cardiac, or cerebrovascular events during the study period. The predefined measures for cardiac, renal and neurologic function, and FD-related symptoms and questionnaires were stable between baseline and the switch, and remained unchanged with migalastat. However, a significant improvement was observed in left ventricular mass index from baseline to T2 (p = 0.016), with a significative difference between the treatments (p = 0.028), and in median proteinuria from T2 vs T1 (p = 0.048). Moreover, scores of the BPI improved from baseline to T1, and remained stable with migalastat. Plasma lyso-Gb3 levels significantly decreased from baseline to T1 (P = 0.007) and T2 (P = 0.003), while did not significantly differ between the two treatments. α-Gal A activity increased from T0 to T2 (p < 0.0001). The frequency of adverse effects under migalastat and ERT was comparable (28% for both drugs). In conclusion, switching from ERT to migalastat is valid, safe and well tolerated.
Abstract
Aims
This study assessed the impact of the strain-guided therapeutic approach on cancer therapy-related cardiac dysfunction (CTRCD) and rate of cancer therapy (CT) interruption in breast ...cancer.
Methods and results
We enrolled 116 consecutive female patients with HER2-positive breast cancer undergoing a standard protocol by EC (epirubicine + cyclophosphamide) followed by paclitaxel + trastuzumab (TRZ). Coronary artery, valvular and congenital heart disease, heart failure, primary cardiomyopathies, permanent or persistent atrial fibrillation, and inadequate echo-imaging were exclusion criteria. Patients underwent an echo-Doppler exam with determination of ejection fraction (EF) and global longitudinal strain (GLS) at baseline and every 3 months during CT. All patients developing subclinical (GLS drop >15%) or overt CTRCD (EF reduction <50%) initiated cardiac treatment (ramipril+ carvedilol). In the 99.1% (115/116) of patients successfully completing CT, GLS and EF were significantly reduced and E/e′ ratio increased at therapy completion. Combined subclinical and overt CTRCD was diagnosed in 27 patients (23.3%), 8 at the end of EC and 19 during TRZ courses. Of these, 4 (3.4%) developed subsequent overt CTRCD and interrupted CT. By cardiac treatment, complete EF recovery was observed in two of these patients and partial recovery in one. These patients with EF recovery re-started and successfully completed CT. The remaining patient, not showing EF increase, permanently stopped CT. The other 23 patients with subclinical CTRCD continued and completed CT.
Conclusion
These findings highlight the usefulness of ‘strain oriented’ approach in reducing the rate of overt CTRCD and CT interruption by a timely cardioprotective treatment initiation.
Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide, placing a major economic and resource burden on public health systems. During hospitalization, all AMI ...patients should be evaluated with transthoracic echocardiography, a noninvasive, low-cost, and easily available bedside imaging tool that allows the detection of myocardial walls involved in the ischemic process, damage extent, functional consequences, and mechanical complications. Moreover, and more importantly, transthoracic echocardiography can provide information on short- and long-term outcomes after AMI. The purpose of this review is to clarify the role of standard and advanced echocardiographic parameters for an early identification of patients at high risk for developing adverse events and mortality after AMI. Standard echocardiography (in particular left ventricular ejection fraction, wall motion score index, and diastolic measurements including E velocity deceleration time and E/e' ratio) proposes powerful parameters for risk stratification after AMI. Advanced echocardiographic technologies, in particular speckle-tracking-derived longitudinal strain, coronary flow velocity reserve, and myocardial contrast echocardiography (contrast defect index), can provide additional prognostic value beyond standard techniques. Therefore, echocardiography plays a fundamental role in predicting short- and long-term prognosis, and a more accurate risk stratification of patients may be useful to drive therapy and follow-up after AMI. Accordingly, a comprehensive echocardiography-based algorithm would be welcome for an early stratification of cardiovascular risk in patients experiencing AMI.
The coronavirus infection is constantly diffusing worldwide and the incidence of death is dramatically increasing, representing one of the greatest disasters in human history. Nowadays, no effective ...therapeutic approaches have been licensed, despite the rising interest of the scientific research in this specific field, and the daily growing number of publications, while the need to find novel strategies is urgent. Evidence in the literature reported the antiviral activity of polyphenols, the largest class of bioactive compounds in nature. Interestingly, a limited number of studies investigated the efficacy of polyphenols from different raw materials, directly against coronaviruses. The present manuscript aimed to report this evidence and provide a viewpoint on the possibility to use it as a start point for the development of novel natural approaches against this viral infection, eventually designing further appropriate researches.
To analyze left ventricular myocardial deformation and contractile reserve in endurance athletes at rest and during exercise, and their possible correlations with functional capacity. The athlete’s ...heart in endurance training is characterized by physiologic eccentric remodeling, with left ventricle adaptation at rest and echocardiographic parameters at low end of normality. Assessment of left ventricle systolic function and contractile reserve has an important role in the decision-making and in differential diagnosis with cardiomyopathies. Standard echo, lung ultrasound, left ventricle 2D speckle-tracking strain and myocardial work were performed at rest and during exercise in endurance athletes and in age- and sex-comparable healthy controls. 350 endurance athletes (male sex 58.5%; 31.6 ± 4.2 years) and 150 healthy controls were enrolled. Left ventricular ejection fraction at baseline was comparable between the two groups. Resting left ventricular global longitudinal strain was reduced in endurance athletes (− 18.4 ± 2.6% vs. − 22.4 ± 3.3% in controls; p < 0.01). Myocardial work efficiency did not show significative difference between the two groups. At peak exertion during exercise stress echocardiography, endurance athletes showed better exercise capacity and peak VO
2
consumption (58.6 ± 10.2 ml/kg/min vs 38.6 ± 3.3 ml/kg/min in controls, p < 0.0001), associated with a preserved contractile reserve and augmented pulmonary artery systolic pressure. By multivariable analysis myocardial work efficiency at rest was closely related to maximal watts (p < 0.0001), peak VO
2
, (p < 0.0001), left ventricular E/eʹ (p < 0.001) and number of B-lines (p < 0.001), all measured at peak effort. Myocardial work efficiency shows less load-dependency than global longitudinal strain. Normal resting values of myocardial work efficiency in endurance athletes suggest a physiological remodeling, associated with a better exercise capacity and preserved contractile reserve during physical effort.
Objective
Speckle-tracking echocardiography (STE) deformation parameters detect latent LV dysfunction in chronic aortic regurgitation (AR) and are associated with outcomes. The aim of the study was ...to evaluate cardiac magnetic resonance (CMR) feature tracking (FT) deformation parameters in asymptomatic patients with AR and implications in outcomes.
Methods
Fifty-five patients with AR and 54 controls were included. Conventional functional CMR parameters, aortic regurgitant volume, and fraction were assessed. CMR-FT analysis was performed with a dedicated software. Clinical data was obtained from hospital records. A combined endpoint included all-cause mortality, cardiovascular mortality, aortic valve surgery, or cardiovascular hospital admission due to heart failure.
Results
Left ventricular (LV) mechanics is impaired in patients with significant AR. Significant differences were noted in global longitudinal strain (GLS) between controls and AR patients (− 19.1 ± 2.9% vs − 16.5 ± 3.2%,
p
< 0.001) and among AR severity groups (− 18.3 ± 3.1% vs − 16.2 ± 1.6% vs − 15 ± 3.5%;
p
= 0.02 for AR grades I–II, III, and IV). In univariate and multivariate analyses, circumferential strain (GCS) and global radial strain (GRS) but not GLS were associated with and increased risk of the end point with a HR of 1.26 (
p
= 0.016, 1.04–1.52) per 1% worsening for GCS and 0.90 (
p
= 0.012, 0.83–0.98) per 1% worsening for GRS.
Conclusions
CMR-FT myocardial deformation parameters are impaired in patients with AR not meeting surgical criteria. GLS decreases early in the course of the disease and is a marker of AR severity while GCS and GRS worsen later but predict a bad prognosis, mainly the need of aortic valve surgery.
Key Points
• CMR feature tracking LV mechanic parameters may be reduced in significant chronic AR with normal EF.
• LV mechanics, mainly global longitudinal strain, worsens as AR severity increases.
• LV mechanics, specially global radial and circumferential strain, is associated with a worse prognosis in AR patients.
Cardiopulmonary exercise test (CPET) is a functional assessment that helps to detect disorders affecting the system involved in oxygen transport and utilization through the analysis of the gas ...exchange during exercise. The clinical application of CPET is various, it including training prescription, evaluation of treatment efficacy and outcome prediction in a broad spectrum of conditions. Furthermore, in patients with shortness of breath it provides pivotal information to bring out an accurate differential diagnosis between physical deconditioning, cardiopulmonary disease and muscular diseases. Modern software allows the breath-by-breath analysis of the volume of oxygen intake (VO
), volume of carbon dioxide output (VCO
) and expired air (VE). Through this analysis, CPET provides a series of additional parameters (peak VO
, ventilatory threshold, VE/VCO
slope, end-tidal carbon dioxide exhaled) that characterize different patterns, helping in diagnosis process. Limitations to the routine use of CPET are mainly represented from the lack of measurement standardization and limited data from randomized multicentric studies. The integration of CPET with exercise stress echocardiography has been recently introduced in the clinical practice by integrating the diagnostic power offered by both the tools. This combined approach has been demonstrated to be valuable for diagnosing several cardiac diseases, including heart failure with preserved or reduced ejection fraction, cardiomyopathies, pulmonary arterial hypertension, valvular heart disease and coronary artery disease. Future investigations are needed to further promote this intriguing combination in the clinical and research setting.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by neoplastic transformation of pluripotent cells due to a typical cytogenetic and molecular mutation known as ...Philadelphia (Ph) chromosome. In 2001, the introduction of the tyrosine kinasis inhibitor (TKI) imatinib as a therapeutic strategy for CML with PH chromosome mutation represented an important step towards treatment of these patients, and nowadays, this drug represents the gold therapeutic standard in this clinical setting. A second generation of TKIs (dasatinib, nilotinib, and bosutinib) showed an effective action in all patients with mutations resistant to imatinib. Ponatinib is a third-generation TKI and is the only inhibitor with activity against T3151 mutation. The impact of ponatinib on cardiovascular events was first evaluated in the PACE trial. We therefore report and discuss most relevant evidence currently available on cardiovascular events associated with the use of ponatinib. Though many exams can be used for diagnosis and follow-up of this kind of cardiotoxicity, echocardiography seems to have a pivotal role thanks to its feasibility, availability, and low cost.
Left ventricular (LV) global longitudinal strain (GLS) has established itself in the last decade as a reliable, more objective method for the evaluation of LV systolic function, able to detect subtle ...abnormalities in LV contraction even in the presence of preserved ejection fraction (EF). However, recent studies have demonstrated that GLS, similar to LV EF, has important load dependency. Non-invasive myocardial work (MW) quantification has emerged in the last years as an alternative tool for myocardial function assessment. This new method, incorporating measurement of strain and LV pressure, has shown to overcome GLS and LV EF limitations and provide a loading-independent evaluation of myocardial performance. The presence of a commercially available echocardiographic software for the non-invasive MW calculation has allowed the application of this new method in different settings. This review sought to provide an overview on the current knowledge of non-invasive MW estimation, showing its potential applications and possible added value in clinical practice.
Cor pulmonale is the condition in which the right ventricle undergoes morphological and/or functional changes due to diseases that affect the lungs, the pulmonary circulation, or the breathing ...process. Depending on the speed of onset of the pathological condition and subsequent effects on the right ventricle, it is possible to distinguish the acute cor pulmonale from the chronic type of disease. Echocardiography plays a central role in the diagnostic and therapeutic work-up of these patients, because of its non-invasive nature and wide accessibility, providing its greatest usefulness in the acute setting. It also represents a valuable tool for tracking right ventricular function in patients with cor pulmonale, assessing its stability, deterioration, or improvement during follow-up. In fact, not only it provides parameters with prognostic value, but also it can be used to assess the efficacy of treatment. This review attempts to provide the current standards of an echocardiographic evaluation in both acute and chronic cor pulmonale, focusing also on the findings present in the most common pathologies causing this condition.
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