1,721,027 research outputs found
Heart failure with reduced ejection fraction and monogenic dilated cardiomyopathy: Distinct diseases? Insights from randomized controlled trials
Full text linkThe genetic component of heart failure with reduced ejection fraction (HFrEF) is traditionally considered as part of the non-ischaemic aetiology. Dilated cardiomyopathy (DCM) has been recognized as the most heterogeneous amongst the classical cardiomyopathy phenotypes, with >250 genes which have been causally related with the disease
The contribution of cardiopulmonary exercise testing in the familial screening for dilated and non-dilated left ventricular cardiomyopathies: case series
Full text linkBackground: The importance of family screening in relatives of patients affected by cardiomyopathies is highlighted in the international guidelines. Although electrocardiogram (ECG) and echocardiogram represent cornerstones of family screening, they may not always be sufficient to detect subtle abnormalities, especially in genotype-positive/phenotype-negative relatives. The role of cardiopulmonary exercise testing (CPET) in providing additional clinical information during family screening, remains to be fully elucidated.
Case summary: Ten asymptomatic genotype-positive/phenotype-negative first-degree relatives of probands affected by dilated cardiomyopathy (DCM) and non-dilated left ventricular cardiomyopathy (NDLVC) were evaluated in the context of family screening. Cardiopulmonary exercise testing was integrated into the initial diagnostic evaluation. Two out of 10 relatives showed an abnormal CPET, with alteration in O2 kinetic.
Discussion: Family screening in relatives of DCM and NDLVC patients, particularly in genotype-positive/phenotype-negative subjects, remains challenging due to difficulties in assessing the subtle abnormalities that may represent an initial clinical manifestation of the disease and support early treatment initiation. A more accurate and comprehensive familial screening may be achieved by integrating ECG and echocardiogram-the current first-line assessments-with data from additional tools, such as global longitudinal strain on echocardiogram, cardiac magnetic resonance, Holter ECG, and CPET
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Arrhythmic risk stratification in non-ischaemic dilated cardiomyopathy
Full text linkDilated cardiomyopathy is a primary disease of the heart muscle, which affects relatively young patients with a low comorbidity profile. It is characterized by structural and/or functional abnormalities leading to systolic dysfunction of the left ventricle or of both ventricles, often associated with dilatation, in the absence of an ischaemic, valvular, or pressure overload cause sufficient to explain the phenotype. Although the prognosis of the disease has greatly improved over the last few decades, prognostic stratification remains a fundamental objective, especially about the prediction of potentially life-threatening arrhythmic events. An accurate diagnostic work-up and an appropriate aetiopathogenetic characterization affect the patients' outcome and represent the essential basis of an adequate prognostic stratification. It is necessary to adopt a multiparametric approach, especially when the aim is the prediction of arrhythmic risk; it includes an integration of medical history and physical examination with cardiac imaging and genetic testing, in order to obtain a personalized diagnosis and therapeutic strategies. Furthermore, the evaluation should be repeated at every clinical check-up, considering the dynamic trend of the pathology and the arrhythmic risk changes over time. This article aims to illustrate how, starting from an exhaustive aetiological and clinical-instrumental characterization, including all diagnostic methods available at present time, it is possible to obtain a tailored diagnostic evaluation and stratification of the arrhythmic risk as accurate as possible
Prognostic value of echocardiographic evaluation of cardiac mechanics in patients with aortic stenosis and preserved left ventricular ejection fraction
Full text linkLeft ventricular ejection function (LVEF) is not reliable in identifying subtle systolic dysfunction. Speckle Tracking (ST) plays a promising role and hemodynamic forces (HDFs) are emerging as marker of LV function. The role of LV myocardial deformation and HDFs was investigated in a cohort of patients with aortic stenosis (AS) and normal LVEF. Two hundred fifty three patients (median age 79 years, IQR 73 - 83 years) with mild (n = 87), moderate (n =77) and severe AS (n =89) were retrospectively enrolled. 2D echocardiographic global longitudinal strain (GLS), circumferential strain (GCS) and HDFs were determined. The worsening of AS was associated with raising inappropriate LV mass (p -19,9%) and LV systolic longitudinal force (LVsysLF) value (< 12,49), patients with impaired ST and lower HDFs components had increased incidence of aortic valve replacement (AVR) and worse survival (p <0.024 and p <0.037, respectively). Among ST and HDFs parameters, only LVsysLF was independently associated with AVR and all causes mortality on multivariable Cox regression analysis (HR 0.94; 95% CI 0.89-0.99; p= 0.012). Reduced values of LVsysLF were associated with AVR and reduced survival in AS patients. LVsysLF could provide useful information in the stratification of patients with AS and possibly in the choice of timing for AVR
Critical analysis of the 2023 ESC guidelines on cardiomyopathy management
Full text linkThe first European Society of Cardiology (ESC) guidelines on the management of cardiomyopathies (CMPs), published 1 year ago, remain highly relevant. These guidelines provide a comprehensive framework to manage the complexity of CMPs, consolidating previous approaches. All CMPs are now addressed systematically in one document. The ESC recommends a ‘CMP-oriented’ approach, emphasizing thorough clinical assessments and phenotype-first categorization into hypertrophic, dilated, arrhythmogenic, restrictive, and non-dilated left ventricular CMP. Despite the utility of this method, certain classifications, such as arrhythmogenic right ventricular CMP and the novel non-dilated left ventricular CMP, raise controversies. Key advances in the guidelines include the use of genetic testing and cardiac magnetic resonance imaging to refine diagnoses and inform treatment, especially for high-risk genotypes. These guidelines advocate for personalized, multidisciplinary care. Overall, they represent a significant step forward but highlight the evolving nature of CMP management as scientific understanding progresses
Cardiac fluid dynamics meets deformation imaging
Full text linkAbstract Cardiac function is about creating and sustaining blood in motion. This is achieved through a proper sequence of myocardial deformation whose final goal is that of creating flow. Deformation imaging provided valuable contributions to understanding cardiac mechanics; more recently, several studies evidenced the existence of an intimate relationship between cardiac function and intra-ventricular fluid dynamics. This paper summarizes the recent advances in cardiac flow evaluations, highlighting its relationship with heart wall mechanics assessed through the newest techniques of deformation imaging and finally providing an opinion of the most promising clinical perspectives of this emerging field. It will be shown how fluid dynamics can integrate volumetric and deformation assessments to provide a further level of knowledge of cardiac mechanics
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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