Generative models of 3D cardiovascular anatomy can synthesize informative structures for clinical research and medical device evaluation, but face a trade-off between geometric controllability and realism. We propose CardioComposer: a programmable, inference-time framework for generating multi-class anatomical label maps based on interpretable ellipsoidal primitives. These primitives represent geometric attributes such as the size, shape, and position of discrete substructures. We specifically develop differentiable measurement functions based on voxel-wise geometric moments, enabling loss-based gradient guidance during diffusion model sampling. We demonstrate that these losses can constrain individual geometric attributes in a disentangled manner and provide compositional control over multiple substructures. Finally, we show that our method is compatible with a wide array of anatomical systems containing non-convex substructures, spanning cardiac, vascular, and skeletal organs.

Wolff-Parkinson-White (WPW) syndrome is a cardiac electrophysiology (EP) disorder caused by the presence of an accessory pathway (AP) that bypasses the atrioventricular node, faster ventricular activation rate, and provides a substrate for atrio-ventricular reentrant tachycardia (AVRT). Accurate localization of the AP is critical for planning and guiding catheter ablation procedures. While traditional diagnostic tree (DT) methods and more recent machine learning (ML) approaches have been proposed to predict AP location from surface electrocardiogram (ECG), they are often constrained by limited anatomical localization resolution, poor interpretability, and the use of small clinical datasets. In this study, we present a Deep Learning (DL) model for the localization of single manifest APs across 24 cardiac regions, trained on a large, physiologically realistic database of synthetic ECGs generated using a personalized virtual heart model. We also integrate eXplainable Artificial Intelligence (XAI) methods, Guided Backpropagation, Grad-CAM, and Guided Grad-CAM, into the pipeline. This enables interpretation of DL decision-making and addresses one of the main barriers to clinical adoption: lack of transparency in ML predictions. Our model achieves localization accuracy above 95%, with a sensitivity of 94.32% and specificity of 99.78%. XAI outputs are physiologically validated against known depolarization patterns, and a novel index is introduced to identify the most informative ECG leads for AP localization. Results highlight lead V2 as the most critical, followed by aVF, V1, and aVL. This work demonstrates the potential of combining cardiac digital twins with explainable DL to enable accurate, transparent, and non-invasive AP localization.

Accurate fetal brain segmentation is crucial for extracting biomarkers and assessing neurodevelopment, especially in conditions such as corpus callosum dysgenesis (CCD), which can induce drastic anatomical changes. However, the rarity of CCD severely limits annotated data, hindering the generalization of deep learning models. To address this, we propose a pathology-informed domain randomization strategy that embeds prior knowledge of CCD manifestations into a synthetic data generation pipeline. By simulating diverse brain alterations from healthy data alone, our approach enables robust segmentation without requiring pathological annotations. We validate our method on a cohort comprising 248 healthy fetuses, 26 with CCD, and 47 with other brain pathologies, achieving substantial improvements on CCD cases while maintaining performance on both healthy fetuses and those with other pathologies. From the predicted segmentations, we derive clinically relevant biomarkers, such as corpus callosum length (LCC) and volume, and show their utility in distinguishing CCD subtypes. Our pathology-informed augmentation reduces the LCC estimation error from 1.89 mm to 0.80 mm in healthy cases and from 10.9 mm to 0.7 mm in CCD cases. Beyond these quantitative gains, our approach yields segmentations with improved topological consistency relative to available ground truth, enabling more reliable shape-based analyses. Overall, this work demonstrates that incorporating domain-specific anatomical priors into synthetic data pipelines can effectively mitigate data scarcity and enhance analysis of rare but clinically significant malformations.

Evaluation of hydrocephalus in children is challenging, and the related research is limited by a lack of publicly available, expert-annotated datasets, particularly those with segmentation of the choroid plexus. To address this, we present HyKid, an open-source dataset from 48 pediatric patients with hydrocephalus. 3D MRIs were provided with 1mm isotropic resolution, which was reconstructed from routine low-resolution images using a slice-to-volume algorithm. Manually corrected segmentations of brain tissues, including white matter, grey matter, lateral ventricle, external CSF, and the choroid plexus, were provided by an experienced neurologist. Additionally, structured data was extracted from clinical radiology reports using a Retrieval-Augmented Generation framework. The strong correlation between choroid plexus volume and total CSF volume provided a potential biomarker for hydrocephalus evaluation, achieving excellent performance in a predictive model (AUC = 0.87). The proposed HyKid dataset provided a high-quality benchmark for neuroimaging algorithms development, and it revealed the choroid plexus-related features in hydrocephalus assessments. Our datasets are publicly available at https://www.synapse.org/Synapse:syn68544889.

Accurate assessment of intraventricular blood flow is essential for evaluating hemodynamic conditions in patients supported by Left Ventricular Assist Devices (LVADs). However, clinical imaging is either incompatible with LVADs or yields sparse, low-quality velocity data. While Computational Fluid Dynamics (CFD) simulations provide high-fidelity data, they are computationally intensive and impractical for routine clinical use. To address this, we propose LVADNet3D, a 3D convolutional autoencoder that reconstructs full-resolution intraventricular velocity fields from sparse velocity vector inputs. In contrast to a standard UNet3D model, LVADNet3D incorporates hybrid downsampling and a deeper encoder-decoder architecture with increased channel capacity to better capture spatial flow patterns. To train and evaluate the models, we generate a high-resolution synthetic dataset of intraventricular blood flow in LVAD-supported hearts using CFD simulations. We also investigate the effect of conditioning the models on anatomical and physiological priors. Across various input configurations, LVADNet3D outperforms the baseline UNet3D model, yielding lower reconstruction error and higher PSNR results.

The contractile motion of the heart is strongly determined by the distribution of the fibers that constitute cardiac tissue. Strain analysis informed with the orientation of fibers allows to describe several pathologies that are typically associated with impaired mechanics of the myocardium, such as cardiovascular disease. Several methods have been developed to estimate strain-derived metrics from traditional imaging techniques. However, the physical models underlying these methods do not include fiber mechanics, restricting their capacity to accurately explain cardiac function. In this work, we introduce WarpPINN-fibers, a physics-informed neural network framework to accurately obtain cardiac motion and strains enhanced by fiber information. We train our neural network to satisfy a hyper-elastic model and promote fiber contraction with the goal to predict the deformation field of the heart from cine magnetic resonance images. For this purpose, we build a loss function composed of three terms: a data-similarity loss between the reference and the warped template images, a regularizer enforcing near-incompressibility of cardiac tissue and a fiber-stretch penalization that controls strain in the direction of synthetically produced fibers. We show that our neural network improves the former WarpPINN model and effectively controls fiber stretch in a synthetic phantom experiment. Then, we demonstrate that WarpPINN-fibers outperforms alternative methodologies in landmark-tracking and strain curve prediction for a cine-MRI benchmark with a cohort of 15 healthy volunteers. We expect that our method will enable a more precise quantification of cardiac strains through accurate deformation fields that are consistent with fiber physiology, without requiring imaging techniques more sophisticated than MRI.

Here we present a versatile foundation model that can perform a range of clinically-relevant image analysis tasks, including segmentation, landmark localisation, diagnosis, and prognostication. A multi-view convolution-transformer masked autoencoder, named as CineMA, was trained on 15 million cine images from 74,916 subjects. The model was validated on multiple image analysis tasks and compared to existing models on >4,500 images from eight independent datasets with diverse population characteristics, representing the largest benchmark study for cine CMR so far. CineMA consistently outperformed conventional convolutional neural networks (CNNs) in delineating ventricular boundaries and estimating ejection fraction, a key measure of cardiac function. The improved performance was preserved, even when the model only used half of fine-tuning data. CineMA also surpassed CNNs in disease detection and matched their performance in long-axis function measurement. Interestingly, we found that CineMA can also detect cardiac changes in systemic diseases, such as diabetes, hypertension and cancer, and can also predict mortality. Finally, we assessed model fairness and demonstrated consistent model performance across demographic subgroups. These findings highlight CineMA's accuracy, learning efficiency, adaptability, and fairness, underscoring its potential as a foundation model for automated cardiac image analysis to support clinical workflow and cardiovascular research. All training and inference code and models are made publicly available at https://github.com/mathpluscode/CineMA.

As the leading cause of death worldwide, cardiovascular diseases motivate the development of more sophisticated methods to analyze the heart and its substructures from medical images like Computed Tomography (CT) and Magnetic Resonance (MR). Semantic segmentations of important cardiac structures that represent the whole heart are useful to assess patient-specific cardiac morphology and pathology. Furthermore, accurate semantic segmentations can be used to generate cardiac digital twin models which allows e.g. electrophysiological simulation and personalized therapy planning. Even though deep learning-based methods for medical image segmentation achieved great advancements over the last decade, retaining good performance under domain shift -- i.e. when training and test data are sampled from different data distributions -- remains challenging. In order to perform well on domains known at training-time, we employ a (1) balanced joint training approach that utilizes CT and MR data in equal amounts from different source domains. Further, aiming to alleviate domain shift towards domains only encountered at test-time, we rely on (2) strong intensity and spatial augmentation techniques to greatly diversify the available training data. Our proposed whole heart segmentation method, a 5-fold ensemble with our contributions, achieves the best performance for MR data overall and a performance similar to the best performance for CT data when compared to a model trained solely on CT. With 93.33% DSC and 0.8388 mm ASSD for CT and 89.30% DSC and 1.2411 mm ASSD for MR data, our method demonstrates great potential to efficiently obtain accurate semantic segmentations from which patient-specific cardiac twin models can be generated.

Cardiac diseases are among the leading causes of morbidity and mortality worldwide, which requires accurate and timely diagnostic strategies. In this study, we introduce an innovative approach that combines deep learning image registration with physics-informed regularization to predict the biomechanical properties of moving cardiac tissues and extract features for disease classification. We utilize the energy strain formulation of Neo-Hookean material to model cardiac tissue deformations, optimizing the deformation field while ensuring its physical and biomechanical coherence. This explainable approach not only improves image registration accuracy, but also provides insights into the underlying biomechanical processes of the cardiac tissues. Evaluation on the Automated Cardiac Diagnosis Challenge (ACDC) dataset achieved Dice scores of 0.945 for the left ventricular cavity, 0.908 for the right ventricular cavity, and 0.905 for the myocardium. Subsequently, we estimate the local strains within the moving heart and extract a detailed set of features used for cardiovascular disease classification. We evaluated five classification algorithms, Logistic Regression, Multi-Layer Perceptron, Support Vector Classifier, Random Forest, and Nearest Neighbour, and identified the most relevant features using a feature selection algorithm. The best performing classifier obtained a classification accuracy of 98% in the training set and 100% in the test set of the ACDC dataset. By integrating explainable artificial intelligence, this method empowers clinicians with a transparent understanding of the model's predictions based on cardiac mechanics, while also significantly improving the accuracy and reliability of cardiac disease diagnosis, paving the way for more personalized and effective patient care.

Background: Conventional cardiovascular magnetic resonance (CMR) in paediatric and congenital heart disease uses 2D, breath-hold, balanced steady state free precession (bSSFP) cine imaging for assessment of function and cardiac-gated, respiratory-navigated, static 3D bSSFP whole-heart imaging for anatomical assessment. Our aim is to concatenate a stack 2D free-breathing real-time cines and use Deep Learning (DL) to create an isotropic a fully segmented 3D cine dataset from these images. Methods: Four DL models were trained on open-source data that performed: a) Interslice contrast correction; b) Interslice respiratory motion correction; c) Super-resolution (slice direction); and d) Segmentation of right and left atria and ventricles (RA, LA, RV, and LV), thoracic aorta (Ao) and pulmonary arteries (PA). In 10 patients undergoing routine cardiovascular examination, our method was validated on prospectively acquired sagittal stacks of real-time cine images. Quantitative metrics (ventricular volumes and vessel diameters) and image quality of the 3D cines were compared to conventional breath hold cine and whole heart imaging. Results: All real-time data were successfully transformed into 3D cines with a total post-processing time of <1 min in all cases. There were no significant biases in any LV or RV metrics with reasonable limits of agreement and correlation. There is also reasonable agreement for all vessel diameters, although there was a small but significant overestimation of RPA diameter. Conclusion: We have demonstrated the potential of creating a 3D-cine data from concatenated 2D real-time cine images using a series of DL models. Our method has short acquisition and reconstruction times with fully segmented data being available within 2 minutes. The good agreement with conventional imaging suggests that our method could help to significantly speed up CMR in clinical practice.