Publications by authors named "Declan P O'Regan"

Article Synopsis
  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
  • Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
  • The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
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  • Cardiac trabeculae are muscular structures in the heart that have a crucial but not fully understood role in heart function and disease.
  • A study involving over 47,000 participants from the UK Biobank found links between trabecular shape and rare genetic variants in 56 genes related to heart muscle function and development.
  • The research also revealed 68 genetic regions associated with heart condition pathways, indicating that variations in trabeculation may influence the severity of heart diseases like hypertrophic and dilated cardiomyopathy.
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  • The study explores the use of advanced neural network-derived ECG features to predict cardiovascular disease and mortality, aiming to uncover subtle, important indicators that traditional methods might miss.
  • Using data from over 1.8 million patients and various international cohorts, researchers identified three distinct phenogroups, with one, phenogroup B, showing a significantly higher mortality risk—20% more than phenogroup A.
  • The findings suggest that neural network ECG features not only indicate future health risks like atrial fibrillation and ischemic heart disease but also highlight specific genetic loci that may contribute to these risks.
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Purpose: Finite element analysis (FEA) has been used to predict wall stress in ascending thoracic aortic aneurysm (ATAA) in order to evaluate risk of dissection or rupture. Patient-specific FEA requires detailed information on ATAA geometry, loading conditions, material properties, and wall thickness. Unfortunately, measuring aortic wall thickness and mechanical properties non-invasively poses a significant challenge, necessitating the use of non-patient-specific data in most FE simulations.

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  • - The AI-ECG risk estimator (AIRE) platform was developed to improve predictions of future disease and mortality risks from electrocardiograms (ECGs), addressing limitations in existing models related to individual actionability and biological plausibility.
  • - AIRE utilizes deep learning and survival analysis on a massive dataset of over 1.16 million ECGs to predict patient-specific mortality risks and timelines, validated across diverse international cohorts.
  • - The platform demonstrated high accuracy for predicting various health risks, such as all-cause mortality and heart failure, and identified biological pathways linked to cardiac health, making it a promising tool for clinical use globally.
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  • Immune-mediated inflammatory diseases (IMIDs) affect about 10% of Western populations and are rising in developing countries, often leading to serious cardiovascular issues that are frequently overlooked.
  • Common cardiovascular problems associated with IMIDs can include premature heart disease and inflammatory conditions like myocarditis, pointing to shared inflammatory processes between rheumatic diseases and cardiovascular health.
  • New diagnostic approaches for early detection and monitoring of heart issues in IMIDs are developing, along with the potential for advanced imaging techniques to help with assessing risk and improving patient management.
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The opening and closing dynamics of the aortic valve (AV) has a strong influence on haemodynamics in the aortic root, and both play a pivotal role in maintaining normal physiological functions of the valve. The aim of this study was to establish a subject-specific fluid-structure interaction (FSI) workflow capable of simulating the motion of a tricuspid healthy valve and the surrounding haemodynamics under physiologically realistic conditions. A subject-specific aortic root was reconstructed from magnetic resonance (MR) images acquired from a healthy volunteer, whilst the valve leaflets were built using a parametric model fitted to the subject-specific aortic root geometry.

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  • The study aimed to assess the effectiveness of ECG in detecting cardiac issues in post-hospitalized COVID-19 patients through cardiac magnetic resonance (CMR) imaging.
  • Results showed that these patients had significantly more ECG abnormalities compared to healthy controls, yet both groups had similar levels of CMR abnormalities.
  • Adding additional analyses on repolarization improved ECG's ability to identify patients with CMR abnormalities and reduced the reliance on sex in the diagnostic process.
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Background: Cardiovascular magnetic resonance (CMR) is an important imaging modality for the assessment of heart disease; however, limitations of CMR include long exam times and high complexity compared to other cardiac imaging modalities. Recently advancements in artificial intelligence (AI) technology have shown great potential to address many CMR limitations. While the developments are remarkable, translation of AI-based methods into real-world CMR clinical practice remains at a nascent stage and much work lies ahead to realize the full potential of AI for CMR.

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Article Synopsis
  • * The research involved 16 obese patients and measured changes in heart structure and function before and after surgery, compared to a control group of lean individuals.
  • * Results showed that bariatric surgery led to significant improvements in heart structure and function, but some issues, like prolonged atrial activation, persisted despite weight loss.
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Background: Although APOE ε4 allele carriage confers a risk for coronary artery disease, its persistence in humans might be explained by certain survival advantages (antagonistic pleiotropy).

Methods: Combining data from ~ 37,000 persons from three older age British cohorts (1946 National Survey of Health and Development [NSHD], Southall and Brent Revised [SABRE], and UK Biobank) and one younger age cohort (Avon Longitudinal Study of Parents and Children [ALSPAC]), we explored whether APOE ε4 carriage associates with beneficial or unfavorable left ventricular (LV) structural and functional metrics by echocardiography and cardiovascular magnetic resonance (CMR).

Results: Compared to the non-APOE ε4 group, APOE ε4 carriers had similar cardiac phenotypes in terms of LV ejection fraction, E/e', posterior wall and interventricular septal thickness, and LV mass.

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Motivation: Random forests (RFs) can deal with a large number of variables, achieve reasonable prediction scores, and yield highly interpretable feature importance values. As such, RFs are appropriate models for feature selection and further dimension reduction. However, RFs are often not appropriate for correlated datasets due to their mode of selecting individual features for splitting.

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  • Preeclampsia is a serious pregnancy condition that affects the mother and baby and can have both short- and long-term effects.
  • Researchers used a special type of scan called MRI to look at the hearts of moms, the placenta, and the fetal brain in pregnant women with preeclampsia compared to those without complications.
  • The study found that moms with preeclampsia had a bigger heart and that the placenta and fetal brain showed signs of not getting enough oxygen, which might help doctors understand and manage this condition better.
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3D motion estimation from cine cardiac magnetic resonance (CMR) images is important for the assessment of cardiac function and the diagnosis of cardiovascular diseases. Current state-of-the art methods focus on estimating dense pixel-/voxel-wise motion fields in image space, which ignores the fact that motion estimation is only relevant and useful within the anatomical objects of interest, e.g.

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Background: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression.

Methods: We enrolled 436 patients with HCM (median age, 60 years; 28.

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Two key questions in cardiac image analysis are to assess the anatomy and motion of the heart from images; and to understand how they are associated with non-imaging clinical factors such as gender, age and diseases. While the first question can often be addressed by image segmentation and motion tracking algorithms, our capability to model and answer the second question is still limited. In this work, we propose a novel conditional generative model to describe the 4D spatio-temporal anatomy of the heart and its interaction with non-imaging clinical factors.

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Aims: To examine the relevance of genetic and cardiovascular magnetic resonance (CMR) features of dilated cardiomyopathy (DCM) in individuals with coronary artery disease (CAD).

Methods And Results: This study includes two cohorts. First, individuals with CAD recruited into the UK Biobank (UKB) were evaluated.

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Article Synopsis
  • * The study involved analyzing data from over 10,000 individuals with HCM and around 2,500 with DCM, revealing significant penetrance rates: 23% for HCM and 35% for DCM by late adulthood for rare, pathogenic variants.
  • * Results indicate that certain variant subgroups, particularly loss-of-function ones, show higher penetrance, especially in males, and the findings will help guide the management and screening of individuals for genetic risks associated with cardi
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Cardiovascular ageing is a process that begins early in life and leads to a progressive change in structure and decline in function due to accumulated damage across diverse cell types, tissues and organs contributing to multi-morbidity. Damaging biophysical, metabolic and immunological factors exceed endogenous repair mechanisms resulting in a pro-fibrotic state, cellular senescence and end-organ damage, however the genetic architecture of cardiovascular ageing is not known. Here we use machine learning approaches to quantify cardiovascular age from image-derived traits of vascular function, cardiac motion and myocardial fibrosis, as well as conduction traits from electrocardiograms, in 39,559 participants of UK Biobank.

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Background: Pre-eclampsia is a multiorgan disease of pregnancy that has short- and long-term implications for the woman and fetus, whose immediate impact is poorly understood. We present a novel multi-system approach to MRI investigation of pre-eclampsia, with acquisition of maternal cardiac, placental, and fetal brain anatomical and functional imaging.

Methods: A prospective study was carried out recruiting pregnant women with pre-eclampsia, chronic hypertension, or no medical complications, and a non-pregnant female cohort.

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Background: Structural changes caused by spinal curvature may impact the organs within the thoracic cage, including the heart. Cardiac abnormalities in patients with idiopathic scoliosis are often studied post-corrective surgery or secondary to diseases. To investigate cardiac structure, function and outcomes in participants with scoliosis, phenotype and imaging data of the UK Biobank (UKB) adult population cohort were analysed.

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Background And Objective: Numerical simulations of blood flow are a valuable tool to investigate the pathophysiology of ascending thoratic aortic aneurysms (ATAA). To accurately reproduce in vivo hemodynamics, computational fluid dynamics (CFD) models must employ realistic inflow boundary conditions (BCs). However, the limited availability of in vivo velocity measurements, still makes researchers resort to idealized BCs.

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Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) and multi-trait analysis (MTAG) including 5,900 HCM cases, 68,359 controls, and 36,083 UK Biobank (UKB) participants with cardiac magnetic resonance (CMR) imaging. We identified a total of 70 loci (50 novel) associated with HCM, and 62 loci (32 novel) associated with relevant left ventricular (LV) structural or functional traits.

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Background: Cardiovascular disease is a major cause of excess mortality in people with schizophrenia. Several factors are responsible, including lifestyle and metabolic effects of antipsychotics. However, variations in cardiac structure and function are seen in people with schizophrenia in the absence of cardiovascular disease risk factors and after accounting for lifestyle and medication.

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