BACKGROUND:Physiological remodeling of the athlete's heart can resemble certain cardiomyopathies, underscoring the importance of robust reference standards. However, most cardiovascular magnetic resonance (CMR) imaging-based studies focus on a narrow subset of adult athletes, providing limited insight into the broader spectrum of exercise-induced changes. Here, we aimed to characterize volumetric, functional, and strain-based adaptations across varying physical activity levels, age groups, and sexes and to establish reference ranges. METHODS:We enrolled 656 participants (13-35 years) in a cardiovascular screening program at our tertiary center (2009-2020). We excluded individuals with cardiac disease, risk factors, or abnormal screening findings. Participants were categorized as sedentary (≤3 h/week), recreational (4-6 h/week), or highly trained (>6 h/week) athletes. CMR was performed using 1.5T scanners to assess ventricular and atrial volumes, myocardial mass, ejection fractions, and feature-tracking strain. We derived 95% prediction intervals stratified by age, sex, and training volume. RESULTS:Of the 575 healthy subjects, 390 were highly trained athletes (22 ± 6 years, 64% male, 19 ± 7 training h/week), 102 recreational athletes (23 ± 6 years, 60% male, 4 ± 1 training h/week), and 83 sedentary individuals (26 ± 4 years, 42% male, 1 ± 1 training h/week). Increasing weekly training hours were associated with larger ventricular volumes, higher myocardial mass, lower ejection fractions, and strain. Compared to sedentary individuals, highly trained athletes had significantly larger left and right ventricular volumes (left ventricular end-diastolic volume index estimate [95% confidence interval]: 0.82 [0.52-1.12], p < 0.001), higher myocardial mass (left ventricular mass index 0.59 [0.31-0.86], p < 0.001), and increased left and right atrial volumes, even after adjusting for age, sex, and weekly training hours. We observed a non-uniform dose-response relationship across activity levels, with the most prominent cardiac adaptations occurring in highly trained athletes. Endurance athletes exhibited the most pronounced volumetric changes among the sport types. Finally, we derived stratified prediction intervals to provide CMR reference ranges in young, healthy individuals stratified by age, sex, general activity level, and weekly training hours. CONCLUSION:This work underscores the influence of age, sex, physical activity level, and type of sports on cardiac adaptation. We provide prediction interval-based CMR reference ranges for volumes, mass, ejection fraction, and strain to improve disease discrimination in athletes.
In-silico modeling of atrial fibrillation (AF) requires anatomically realistic, population-representative shape models that integrate with electrophysiology (EP) modeling frameworks. However, existing statistical shape models (SSMs) often rely on small cohorts or provide limited anatomical coverage. We constructed left atrial (LA), right atrial (RA), and bi-atrial SSMs from late gadolinium-enhanced MRI scans of 74 AF patients. The pipeline involved manual segmentation, rigid alignment, registration, and principal component analysis using the open-source library Scalismo (Scalable Image Analysis and Shape Modeling). From each SSM, 1000 synthetic meshes were generated by sampling principal components (PCs) within ±3 standard deviations. Atrial fiber orientations from a bilayer atlas were mapped onto the synthetic geometries using the atrialmtk framework. This pipeline generated 1000 personalized bi-atrial bilayer meshes for use in EP simulations to assess arrhythmia dynamics and guide patient-specific treatment strategies. The bi-atrial SSM required 29 PCs to capture 95
Objectives To evaluate the value of linked electronic health records (EHRs) for measuring stroke care quality in England before and after the COVID-19 pandemic, focusing on metrics not routinely captured: stroke incidence, dispensing of secondary prevention medications and a proxy of disability—time spent at home after stroke (‘home-time’).Design Prospective cohort study using national linked datasets.Setting England-wide health data linkage including the Sentinel Stroke National Audit Programme (SSNAP), primary and secondary care, dispensed medications and mortality records, accessed via National Health Service (NHS) England’s Secure Data Environment.Participants 425 675 adults with a first stroke between 1 January 2020 and 31 December 2023; data were available for 304 210 in primary care, 279 825 in hospital admissions, 220 470 in SSNAP and 59 465 in death records.Main outcome measures Annual stroke incidence; first-year medication dispensing rates for antiplatelets, anticoagulants, antihypertensives and lipid-lowering agents (with a 1-month washout period) and home-time at 180 days post stroke.Results Stroke ascertainment was highest when combining all sources, with 10.8% of non-fatal ischaemic strokes recorded exclusively in primary care and 19.4% of fatal strokes identified solely through death records. Standardised annual stroke incidence rose from 227.6 (95% CI 226.1 to 229.0) to 244.8 (95% CI 243.4 to 246.3) per 100 000 over the study period including the COVID-19 pandemic. During the COVID-19 lockdown, non-fatal stroke recordings decreased while stroke-related deaths rose, indicating that recording quality was sensitive to shifts in healthcare-seeking behaviour during the pandemic. Among people with ischaemic stroke, 89.1% received an antiplatelet or anticoagulant, 44.5% an antihypertensive and 80.5% a lipid-lowering therapy. For haemorrhagic stroke, these proportions were: for anticoagulants 13.5%, antiplatelets 13.2%, antihypertensives 46.6% and lipid lowering 41.1%. Medication dispensing for stroke prevention declined with increasing age and comorbidity, but varied little by ethnicity, region or pandemic period. Mean home-time within 180 days of stroke was 166.6 (95% CI 166.4 to 166) days, decreasing with greater age (141.4 days for 90 years or older (95% CI 140.7 to 142.1)), deprivation (166.4 days (95% CI 166.1 to 166.6) for most deprived quintile) and stroke severity (137.4 days for National Institutes of Health Stroke Scale (NIHSS) score on arrival over 22 (95% CI 135.8 to 139.1)) and increasing with years from the COVID-19 pandemic 2023 (169.3 days (95% CI 169.0 to 169.5) vs 2020 164.4 days (95% CI 164.1 to 164.7)).Conclusions Standardised stroke incidence increased significantly over the study period, highlighting a growing public health burden that persisted despite disruptions due to the pandemic although variation in case ascertainment and stroke coding practices was observed. While secondary prevention coverage for antiplatelets and lipids was high, lower rates of dispensing of antihypertensives, particularly in older and comorbid populations, potentially signal a target for improvement. Home-time represents a sensitive, person-centred outcome that exposes disparities linked to socioeconomic deprivation and clinical severity that can be used to enhance routine stroke audits. These findings justify the expansion of linked EHR infrastructure and the modernisation of governance frameworks to enable the longitudinal evaluation of care quality beyond the COVID-19 era.
Left and right ventricular imaging measures are essential for heart failure diagnosis and prognostication, yet their genetic architecture remains underexplored. We conduct genome-wide association analyses of twenty left and right cardiovascular magnetic resonance phenotypes in 56,509 UK Biobank participants, including conventional measurements (e.g., volumes/ejection fraction) and novel parameters (left ventricular global function index and myocardial contraction fraction). We identify 200 loci associated with at least one phenotype (P < 5×10-8); 58 being novel. A polygenic risk score for left ventricular global function index negative associates with heart failure in phenome-wide scan. Rare variant analysis reveals enrichment of deleterious variants across 13 genes (P < 2.5×10-6). Colocalisation with heart failure implicates 23 shared loci and bioinformatic analysis prioritises genes including HSPB7, CAMK2D, ALDH2, ENG, and YWHAE. Druggability analysis highlights PDE3A, informing divergent effects of non-selective PDE3 inhibition. In this work, we expand our knowledge of cardiac ventricular genetics, suggesting potential heart failure therapeutic targets.
Heart involvement in eosinophilia represents a rare entity with substantial cardiac morbidity and mortality. This disorder is often overlooked and diagnosed in its advanced stages. In a subgroup of patients with eosinophilic heart disease, peripheral blood eosinophilia may not be present, and the biopsy of the affected organ or tissue is essential to establish the correct diagnosis. In this clinical consensus statement, an expert consensus group reviews the epidemiology, aetiology, diagnosis, and management of eosinophilic heart disease. The aim of the document is to increase awareness about the cardiac involvement associated with eosinophilia in order to diagnose the disease in early phases and prevent deleterious heart damage and adverse outcomes of affected individuals. The spectrum of physiological and immunological derangements requires a multidisciplinary approach for optimal management of affected individuals.
Aims:Cardiovascular magnetic resonance (CMR) is established in guidelines, yet utilization remains inconsistent across Europe and beyond. This study aimed to identify barriers to CMR practice and reporting across European Society of Cardiology (ESC) member and affiliate countries. Methods and results:This study was conducted between January and September 2025. A sequential exploratory mixed methods design was used, comprising two phases: qualitative interviews and a quantitative survey. Countries were grouped into five ESC subregions (Northern, Western, Southern, and Eastern Europe, and Central Asia/Caucasus) based on the United Nations regional classification system. Quantitative data were analysed using chi-square tests for regional differences. Qualitative responses were synthesized using thematic analysis and integrated through triangulation. Among 283 respondents from 46 countries, inadequate reimbursement (46%), insufficient training (38%), and limited scanner capacity (29%) were the main barriers. Eastern European countries reported four-fold higher training deficits than Northern and Southern Europe (56% vs. 14%, P < 0.001). Country-level analyses showed substantial heterogeneity in drivers of limited CMR access, ranging from workforce and efficiency constraints in mature systems to financial and governance restrictions. Qualitative findings enriched these results, identifying structural inefficiencies, interdepartmental barriers, and emerging adaptive strategies such as remote supervision and reading, and regional collaboration networks to support capacity building in resource-limited settings. Conclusion:Across ESC member and affiliated countries, CMR delivery remains constrained by infrastructure, training, and reimbursement limitations. Targeted investment in standardized education, harmonized reimbursement frameworks, and collaborative service models is essential to promote equitable and sustainable access to CMR across Europe.
BackgroundMyocardial fibrosis is a key feature of chronic kidney disease (CKD) and may contribute to its disproportionate cardiovascular (CV) burden. Cardiovascular magnetic resonance (CMR) T1-mapping quantifies diffuse fibrosis non-invasively, but its prognostic value in CKD remains uncertainAimsTo investigate associations between native myocardial T1, mortality and incident CV outcomes, in CKD using a virtual twin-matching framework within the UK Biobank imaging cohort.MethodsWe conducted a 1:1 virtual twin-matched case-cohort study of CKD cases and phenotypically matched non-CKD controls based on demographics, comorbidities, socioeconomic status, and cardiovascular risk factors. Paired analyses compared myocardial T1 between groups, and stratified Cox models estimated the effect of a 1-SD T1 increase on incident outcomes over a median follow-up of 4.9 years.ResultsAmong 193 matched pairs (median age 68 years; 57.5% women), CKD participants had trend-level higher myocardial T1 values than controls (p = 0.063), with greater differences among those experiencing adverse outcomes. Over follow-up, CKD participants had higher cumulative incidences of all-cause mortality (11.3 vs. 3.8 events/1,000 person-years; p = 0.049) and heart failure (12.7 vs. 3.9 events/1,000 person-years; p = 0.021). In CKD, each 1-SD increase in T1 was associated with higher risks of cardiovascular death (HR: 3.86; 95% CI: 1.62, 9.18), heart failure (HR: 2.00; 95% CI: 1.27, 3.15), and atrial fibrillation (HR: 2.04; 95% CI: 1.01, 4.12), but not all-cause mortality or myocardial infarction. No significant associations were observed in matched non-CKD controls.ConclusionsElevated native myocardial T1 was independently associated with CV death, heart failure, and atrial fibrillation in CKD. Virtual twin-matching framework improved comparability and internal validity in matched pairs supporting the precision-matched cohort designs for mechanistic inference and risk stratification in multimorbid populations.
Aims:Climate change poses a major threat to global health, with implications for cardiovascular disease. Cardiovascular imaging warrants attention due to its environmental footprint. Despite recognition of the need for climate-conscious healthcare, awareness and implementation of sustainable practices among cardiovascular imagers remain unclear. This study aims to assess current awareness, knowledge, and attitudes regarding climate change and sustainable cardiovascular imaging. Methods and results:An anonymous 2-month online survey was disseminated via European Association of Cardiovascular Imaging newsletters, social media, and direct invitations. It explored: (i) general environmental consciousness, (ii) knowledge of climate-cardiovascular links, (iii) perceived barriers, strategies, incentives, and communication tools, and (iv) the survey's potential influence on practice. A total of 218 participants from 41 countries responded (51% female; 91% cardiologists; and 84% Europe). Only 11% had received formal education on climate or sustainable healthcare. Self -reported environmental consciousness was low in 12%, moderate in 65%, and high in 23%. While 90% acknowledged healthcare professionals' responsibility in addressing climate change, 60% rarely considered environmental impact when requesting imaging. Knowledge was limited: only 63% correctly answered ≥4 of 7 questions. Main barriers were the lack of awareness (47%) and institutional or medico-legal pressures encouraging frequent imaging (33%). Reducing unnecessary imaging and improving education were seen as the most effective strategies to address these barriers (50%). After completing the survey, 84% reported greater inclination to consider sustainable practice. Conclusion:This international survey highlights a gap between environmental concern and its integration into cardiovascular imaging. Education, institutional support, and system-level strategies are needed to foster sustainable practice.
Epidemiological population studies may include cardiac magnetic resonance (CMR)-derived phenotyping and large-scale genotyping, providing unprecedented level of detail to investigate novel gene-lifestyle-disease interactions. The systematic review presents high-level summaries and critically appraises contemporary challenges and biobank opportunities. The authors identified 17 relevant biobanks by searching "CMR," "genome" and "population study" on MEDLINE, EMBASE, and Web of Science 2025. Collectively, studies recruited ∼1 million participants with stored blood samples for extensive genomic analyses, of whom >180,000 have or will undergo CMR. Use of expansive personal data must safeguard participant confidentiality, encourage technological standardization, and champion inclusivity and sustainability. Application of genotypic and imaging-derived phenotypic information will be readily translatable to clinical practice through investigation of, among others, new therapeutic targets and highly sensitive and specific biomarkers. Imaging biobanks are accessible to researchers by application. This systematic review should inspire greater use and cross-collaboration and facilitate powerful discoveries in more heterogeneous population samples.
Aims:This European Association of Cardiovascular Imaging (EACVI) survey evaluated current practice patterns in the imaging assessment of tricuspid regurgitation (TR), focusing on conventional and advanced modalities, the adoption of recent classifications, and barriers to quantitative right heart assessment. Methods and results:A 25-item online questionnaire was launched during EuroEcho Imaging 2024 and distributed via EACVI channels. From 10 December 2024 to 3 July 2025, 530 respondents from 69 countries participated. Most worked in tertiary/university hospitals (62%) and were imaging specialists (41%) or clinical cardiologists (40%). Transthoracic echocardiography (TTE) was almost universally applied (96%), while use of transoesophageal (TOE) and 3D echocardiography was variable. Tricuspid annular plane systolic excursion (TAPSE) and fractional area change (RVFAC) were frequently used, but RV strain and ejection fraction were underutilized due to time constraints and software unavailability. TR quantification relied mainly on colour Doppler-based parameters, with advanced approaches-3D colour Doppler, cardiac magnetic resonance (CMR)-reserved for selected patients. Half of the respondents routinely applied the 5-grade TR severity scheme, and leaflet-based anatomical classification was inconsistently adopted. Cardiac computed tomography, CMR, and invasive haemodynamics were more often used in patients referred for transcatheter interventions. Conclusion:This EACVI survey highlights considerable heterogeneity in TR imaging practice, with increasing yet slow adoption of robust quantitative and advanced modalities for assessing TR severity and right heart morphology/function. These findings underscore the need for improved access to advanced imaging technologies and broader dissemination of contemporary standards to enhance the quality and consistency of TR imaging in clinical and research settings.
Objectives Chronic kidney disease (CKD) and cardiovascular disease (CVD) are leading global causes of morbidity and mortality, often coexisting and sharing common risk factors. Despite their interconnection, clinical care and research for affected individuals remain siloed and fragmented. Recognising the need for integrated approaches, this study aimed to identify and prioritise key research questions at the intersection of CKD and CVD that can be addressed using real-world healthcare data to inform more cohesive and data-driven strategies for improving outcomes across both disease areas.Design, setting and participants A three-round modified Delphi process was conducted: Round 1 online survey collected open-ended research questions about CKD-CVD priorities via BHF Data Science Centre, Kidney Research UK, UK Renal Health Data Network and HDR UK public involvement channels; Round 2 in-person workshop refined and consolidated items; Round 3 online survey prioritised items across urgency, feasibility and impact using 5-point scales.Main outcome measures Survey mean scores for each research question were calculated across the three prioritisation domains, each scored out of 5. The top-ranked questions were identified based on overall scores.Results Six thematic domains emerged: risk prediction and early detection, treatment optimisation, health inequities, multimorbidity, disease mechanisms and data infrastructure. The highest-rated research priority was “What are the most effective strategies for prevention, early diagnosis and intervention in CKD?” with a mean score of 12.6 (SD 1.1). Other top priorities included evaluating the cost-effectiveness of early treatment, identifying predictors of kidney failure and assessing the benefits of treating cardiovascular and renal conditions independently.Conclusions Across domains, prevention/early detection and early treatment in CKD consistently ranked highest, indicating near-term opportunities for data-enabled cardio-renal research and service improvement; these priorities can inform funder calls, data linkage work and evaluation studies.
Missing data problems, such as missing modalities in multi-modal brain MRI and missing slices in cardiac MRI, pose significant challenges in clinical practice. Existing methods rely on external guidance to supply detailed missing state for instructing generative models to synthesize missing MRIs. However, manual indicators are not always available or reliable in real-world scenarios due to the unpredictable nature of clinical environments. Moreover, these explicit masks are not informative enough to provide guidance for improving semantic consistency. In this work, we argue that generative models should infer and recognize missing states in a self-perceptive manner, enabling them to better capture subtle anatomical and pathological variations. Towards this goal, we propose CoPeDiT, a general-purpose latent diffusion model equipped with completeness perception for unified synthesis of 3D MRIs. Specifically, we incorporate dedicated pretext tasks into our tokenizer, CoPeVAE, empowering it to learn completeness-aware discriminative prompts, and design MDiT3D, a specialized diffusion transformer architecture for 3D MRI synthesis that effectively uses the learned prompts as guidance to enhance semantic consistency in 3D space. Comprehensive evaluations on three large-scale MRI datasets demonstrate that CoPeDiT significantly outperforms state-of-the-art methods, achieving superior robustness and yielding high-fidelity, structurally consistent synthesis across diverse missing patterns.
BACKGROUND AND AIMS:This study aims to provide the most comprehensive assessment to date of interventional cardiology practices across European Society of Cardiology (ESC) national society member countries, with a focus on infrastructure, procedural volumes, temporal trends (2013-22), regional disparities, and adherence to guideline-recommended care. METHODS:The third edition of the ESC-European Association of Percutaneous Cardiovascular Interventions Atlas presents data from 50 ESC national society member countries, collected through a dedicated 2023 survey of national cardiac societies and interventional working groups. Data were subjected to a rigorous multi-step quality control process to ensure consistency and accuracy. Key metrics include interventional resources, such as the number of hospitals with catheterization laboratories, trained personnel, and the proportion of women in the interventional workforce; procedural volumes and types, including percutaneous coronary intervention (PCI), primary PCI, transcatheter aortic valve implantation, transcatheter mitral valve procedures, transcatheter tricuspid valve procedures; and procedural characteristics, including arterial access site, use of intracoronary imaging, physiological lesion assessment, and sex-specific data on patient care delivery. RESULTS:Despite the ongoing expansion of structural heart transcatheter interventions, PCI remains the dominant procedure, accounting for >90% of all percutaneous cardiovascular interventions. Percutaneous coronary intervention volumes showed limited variation across ESC member countries and demonstrated no significant association with gross national income per capita. In contrast, important regional disparities were observed in the use of transcatheter aortic valve implantation, transcatheter mitral valve procedures, and transcatheter tricuspid valve procedures with procedure rates strongly correlated with gross national income (r = .86; r = .63; and r = .64). Workforce data revealed that while women constitute 39% of all cardiologists, they represent only 10% of interventional cardiologists across ESC member countries. Although interventional cardiology has helped reduce female disparity in access compared with cardiac surgery, inequalities persist, e.g. <30% of PCI recipients are women, despite women representing >40% of patients with ischaemic heart disease. Temporal trend analysis showed a narrowing gap in PCI and primary PCI volumes between regions, reflecting improved access across all economic strata. However, growth in structural valve interventions remained disproportionately concentrated in wealthier countries. CONCLUSIONS:The third edition of the ESC-European Association of Percutaneous Cardiovascular Interventions Atlas highlights significant progress in percutaneous cardiovascular interventions across Europe but also underscores persistent disparities. These findings reinforce the need for balanced investment strategies, harmonized training, greater sex equity, and enhanced data infrastructures to support more equitable and evidence-based cardiovascular care.
While deep learning holds great promise for disease diagnosis and prognosis in cardiac magnetic resonance imaging, its progress is often constrained by highly imbalanced and biased training datasets. To address this issue, we propose a method to alleviate imbalances inherent in datasets through the generation of synthetic data based on sensitive attributes such as sex, age, body mass index (BMI), and health condition. We adopt ControlNet based on a denoising diffusion probabilistic model to condition on text assembled from patient metadata and cardiac geometry derived from segmentation masks. We assess our method using a large-cohort study from the UK Biobank by evaluating the realism of the generated images using established quantitative metrics. Furthermore, we conduct a downstream classification task aimed at debiasing a classifier by rectifying imbalances within underrepresented groups through synthetically generated samples. Our experiments demonstrate the effectiveness of the proposed approach in mitigating dataset imbalances, such as the scarcity of diagnosed female patients or individuals with normal BMI level suffering from heart failure. This work represents a major step towards the adoption of synthetic data for the development of fair and generalizable models for medical classification tasks. Notably, we conduct all our experiments using a single, consumer-level GPU to highlight the feasibility of our approach within resource-constrained environments. Our code is available at https://github.com/faildeny/debiasing-cardiac-mri.
Cine cardiac magnetic resonance (cine-CMR) imaging is the gold-standard modality for assessing myocardial structure and function, including Left Ventricular Ejection Fraction (LVEF) measurement. However, cine-CMR presents challenges due to its high-dimensional 3D + time nature. To address this, we propose cine-CLIP, which employs standard deviation (std) mapping across time to reduce 4D data to 3D while preserving dynamic and spatial information. Through extensive experiments on publicly available UK Biobank and ACDC datasets, our method, cine-CLIP, achieves state-of-the-art (SOTA) LVEF prediction with a mean absolute error (MAE) of 2.523, outperforming other techniques. To assess generalizability, we further validate our method on the external Kaggle Data Science Bowl dataset, which follows a slightly different CMR acquisition protocol. Despite domain shifts, we achieved an MAE of 5.091, surpassing prior methods. These findings highlight Cine-CLIP’s ability to capture the high-dimensional complexity of cardiovascular disease from cine-CMR data. LVEF prediction serves as a proof of concept, demonstrating the model’s effectiveness in this task. However, this framework has the potential to be extended to other clinical metrics. The code is available at https://github.com/enriquealmar9/Cine-CLIP .
BACKGROUND:The preferred timing of treatment of nonculprit lesions in patients with ST-segment elevation myocardial infarction (STEMI) remains uncertain. A comparison of immediate percutaneous coronary intervention (PCI) guided by instantaneous wave-free ratio (iFR) and deferred PCI guided by cardiac stress magnetic resonance imaging (MRI) in patients with STEMI and multivessel disease is warranted. METHODS:In this international, investigator-initiated, open-label, randomized, controlled trial, patients with STEMI and at least one nonculprit lesion who had undergone successful primary PCI were randomly assigned in a 1:1 ratio to immediate iFR-guided PCI (in lesions with >50% stenosis and an iFR of ≤0.89 [normal value, >0.89]) or deferred cardiac stress MRI-guided PCI within 6 weeks after randomization. The primary end point was a composite of death from any cause, recurrent myocardial infarction, or hospitalization for heart failure at 3-year follow-up. RESULTS:The trial included 1146 patients (558 in the iFR group and 588 in the MRI group) with a mean (±SD) age of 63±11 years; 78% were men. A total of 237 of 556 patients (42.6%) in the iFR group and 110 of 587 patients (18.7%) in the MRI group underwent nonculprit-lesion coronary-artery PCI. A primary-end-point event occurred in 50 patients (9.3%) in the iFR group and in 55 patients (9.8%) in the MRI group (hazard ratio, 0.95; 95% confidence interval, 0.65 to 1.40; P = 0.81). Serious adverse events occurred in 145 patients in the iFR group and in 181 in the MRI group. CONCLUSIONS:Among patients with STEMI who have undergone successful primary PCI, immediate iFR-guided PCI was not superior to deferred cardiac stress MRI-guided PCI of nonculprit coronary-artery lesions with respect to death from any cause, recurrent myocardial infarction, or hospitalization for heart failure at 3 years. (Funded by Philips Volcano and others; iMODERN ClinicalTrials.gov number, NCT03298659.).
Anderson-Fabry disease (AFD) is a rare genetic disease with X-linked transmission characterized by a defect in the enzyme alpha-galactosidase A (alpha-GAL), which impairs glycosphingolipid metabolism and leads to an excessive storage of globotriaosylceramide (Gb3) within lysosomes. AFD involves renal, cardiac, vascular, and nervous systems and is mainly observed in male patients with onset in childhood, although cardiac manifestation is often shown in adults. AFD cardiomyopathy is caused by the accumulation of Gb3 within myocytes first showed by left ventricular (LV) hypertrophy and diastolic dysfunction, leading to restrictive cardiomyopathy and systolic heart failure with biventricular involvement. The diagnosis of AFD cardiomyopathy may be insidious in the first stages and requires accurate differential diagnosis with other cardiomyopathies with hypertrophic phenotype. However, it is fundamental to promptly initiate specific therapies that have shown promising results, particularly for early treatment. A careful integration between clinical evaluation, genetic tests, and cardiac imaging is required to diagnose AFD with cardiac involvement. Basic and advanced echocardiography, cardiac magnetic resonance, and nuclear imaging may offer pivotal information for early diagnosis (Central illustration) and the management of these patients is often limited to centres with high expertise in the field. This clinical consensus statement, developed by experts from the European Society of Cardiology (ESC) Working Group on Myocardial & Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC, aims to provide practical advice for all clinicians regarding the use of multimodality imaging to simplify the diagnostic evaluation, prognostic stratification, and management of cardiac involvement in AFD.
Aims:Valvular heart disease is a leading cause of cardiovascular morbidity and mortality globally, with women experiencing delayed referrals, difficulties recognizing atypical symptoms, and suboptimal adherence to guideline-based therapies, resulting in worse outcomes. However, the literature identifying these disparities remains limited, underscoring the need for a comprehensive registry to address these gaps. The Valvular Heart Disease in Women Registry (VHD-W) aims to provide real-world insights into gender differences by examining treatment patterns, guideline adherence, and clinical results. Methods and results:The VHD-W is an international, multicenter, non-commercial, investigator-initiated, multipurpose registry endorsed by the European Association of Cardiovascular Imaging. The VHD-W involves adult patients with moderate-to-severe valvular heart disease admitted, either urgently or electively, to the cardiology inpatient service. The study aims to enrol 800 patients, balanced between genders, across more than 70 centres worldwide, over a 6-month period from the registry inception in March 2024 until the end of December 2025. Data will be collected at inpatient admission, inpatient discharge, and 1-year follow-up, including demographics, medical history, physical examination, biomarkers, echocardiography, other imaging results, and management. Conclusion The VHD-W is the first registry to focus on gender disparities in valvular heart disease in a real-world setting, aiming to fill a significant management gap that will help develop gender-specific, evidence-based guidelines for valvular heart disease.