Artificial intelligence-enhanced electrocardiogram (AI-ECG) has shown promise as an inexpensive, ubiquitous, and non-invasive screening tool to detect left ventricular systolic dysfunction in pediatric congenital heart disease. However, current approaches rely heavily on large-scale labeled datasets, which poses a major obstacle to the democratization of AI in hospitals where only limited pediatric ECG data are available. In this work, we propose a robust training framework to improve AI-ECG performance under low-resource conditions. Specifically, we introduce an on-manifold adversarial perturbation strategy for pediatric ECGs to generate synthetic noise samples that better reflect real-world signal variations. Building on this, we develop an uncertainty-aware adversarial training algorithm that is architecture-agnostic and enhances model robustness. Evaluation on the real-world pediatric dataset demonstrates that our method enables low-cost and reliable detection of left ventricular systolic dysfunction, highlighting its potential for deployment in resource-limited clinical settings.
Congenital heart defects (CHD) are the most prevalent birth defects in the United States and surgical outcomes vary considerably across the country. The outcomes of treatment for CHD differ for specific patient subgroups, with non-Hispanic Black and Hispanic populations experiencing higher rates of mortality and morbidity. A valid comparison of outcomes within racial/ethnic subgroups is difficult given large differences in case-mix and small subgroup sizes. We propose a causal inference framework for outcome assessment and leverage advances in transfer learning to incorporate data from both target and source populations to help estimate causal effects while accounting for different sources of risk factor and outcome differences across populations. Using the Society of Thoracic Surgeons' Congenital Heart Surgery Database (STS-CHSD), we focus on a national cohort of patients undergoing the Norwood operation from 2016-2022 to assess operative mortality and morbidity outcomes across U.S. geographic regions by race/ethnicity. We find racial and ethnic outcome differences after controlling for potential confounding factors. While geography does not have a causal effect on outcomes for no
Congenital heart disease (CHD) is the most common type of birth defect, impacting about 1% of live births worldwide. Echocardiography, the gold-standard diagnostic method, is costly and inaccessible in low-resource settings. Diagnosis is delayed due to limited skilled experts, whose ability to interpret pathological patterns varies significantly, causing inter- and intra-clinician variability. Therefore, we present a new method for a more accessible diagnostic modality, the digital stethoscope, to detect CHDs. Our method is based on deep feature fusion, integrating deep and handcrafted features for the automated early detection of CHDs. For this work, Phonocardiography (PCG) recordings were obtained from 751 pediatric subjects (Age:1 month- 16 years) in Bangladesh, ranging from infants to adults at four auscultation locations: mitral valve (MV), aortic valve (AV), pulmonary valve (PV), and tricuspid valve (TV). These recordings were labeled based on confirmed diagnoses by cardiologists as either cases of CHD or non-CHD. The results demonstrated that our proposed model achieved an accuracy of 92%, a sensitivity of 91%, and a specificity of 91%, based on a patient-wise split of 70% t
Purpose: We developed an artificial neural network (ANN) combining radiomics with clinical and dosimetric features to predict the extent of body mass index (BMI) increase after surgery and proton therapy, with advantage of improved accuracy and integrated key feature selection. Methods and Materials: Uniform treatment protocol composing of limited surgery and proton radiotherapy was given to 84 pediatric craniopharyngioma patients (aged 1-20 years). Post-treatment obesity was classified into 3 groups (<10%, 10-20%, and >20%) based on the normalized BMI increase during a 5-year follow-up. We developed a densely connected 4-layer ANN with radiomics calculated from pre-surgery MRI (T1w, T2w, and FLAIR), combining clinical and dosimetric features as input. Accuracy, area under operative curve (AUC), and confusion matrices were compared with random forest (RF) models in a 5-fold cross-validation. The Group lasso regularization optimized a sparse connection to input neurons to identify key features from high-dimensional input. Results: Classification accuracy of the ANN reached above 0.9 for T1w, T2w, and FLAIR MRI. Confusion matrices showed high true positive rates of above 0.9 wh
Congenital heart defect (CHD) detection in ultrasound videos is hindered by image noise and probe positioning variability. While automated methods can reduce operator dependence, current machine learning approaches often neglect temporal information, limit themselves to binary classification, and do not account for prediction calibration. We propose Temporal Prompt Alignment (TPA), a method leveraging foundation image-text model and prompt-aware contrastive learning to classify fetal CHD on cardiac ultrasound videos. TPA extracts features from each frame of video subclips using an image encoder, aggregates them with a trainable temporal extractor to capture heart motion, and aligns the video representation with class-specific text prompts via a margin-hinge contrastive loss. To enhance calibration for clinical reliability, we introduce a Conditional Variational Autoencoder Style Modulation (CVAESM) module, which learns a latent style vector to modulate embeddings and quantifies classification uncertainty. Evaluated on a private dataset for CHD detection and on a large public dataset, EchoNet-Dynamic, for systolic dysfunction, TPA achieves state-of-the-art macro F1 scores of 85.40%
Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital heart disease is therefore critical. Deep learning is a cutting-edge machine learning technique for finding patterns in images but has not yet been applied to prenatal diagnosis of congenital heart disease. Using 685 retrospectively collected echocardiograms from fetuses 18-24 weeks of gestational age from 2000-2018, we trained convolutional and fully-convolutional deep learning models in a supervised manner to (i) identify the five canonical screening views of the fetal heart and (ii) segment cardiac structures to calculate fetal cardiac biometrics. We then trained models to distinguish by view between normal hearts, TOF, and HLHS. In a holdout test set of images, F-score for identification of the five most important fetal cardiac views was 0.95. Binary classification of unannotated cardiac views of normal heart vs. TOF reached an o
Congenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations remains limited. Recent advancements in machine learning have demonstrated the potential for leveraging patient data to enable early congenital heart disease detection. Over the past seven years, researchers have proposed various data-driven and algorithmic solutions to address this challenge. This paper presents a systematic review of congential heart disease recognition using machine learning, conducting a meta-analysis of 432 references from leading journals published between 2018 and 2024. A detailed investigation of 74 scholarly works highlights key factors, including databases, algorithms, applications, and solutions. Additionally, the survey outlines reported datasets used by machine learning experts for congenital heart disease recognition. Using a systematic literature review methodology, this study identifies critical challenges and opportunities in applying machine learning to congenital heart disease.
Pediatric congenital hydronephrosis (CH) is a common urinary tract disorder, primarily caused by obstruction at the renal pelvis-ureter junction. Magnetic resonance urography (MRU) can visualize hydronephrosis, including renal pelvis and calyces, by utilizing the natural contrast provided by water. Existing voxel-based segmentation approaches can extract CH regions from MRU, facilitating disease diagnosis and prognosis. However, these segmentation methods predominantly focus on morphological features, such as size, shape, and structure. To enable functional assessments, such as urodynamic simulations, external complex post-processing steps are required to convert these results into mesh-level representations. To address this limitation, we propose an end-to-end method based on deep neural networks, namely KidMesh, which could automatically reconstruct CH meshes directly from MRU. Generally, KidMesh extracts feature maps from MRU images and converts them into feature vertices through grid sampling. It then deforms a template mesh according to these feature vertices to generate the specific CH meshes of MRU images. Meanwhile, we develop a novel schema to train KidMesh without relying
Detailed anatomical information is essential to optimize medical decisions for surgical and pre-operative planning in patients with congenital heart disease. The visualization techniques commonly used in clinical routine for the exploration of complex cardiac data are based on multi-planar reformations, maximum intensity projection, and volume rendering, which rely on basic lighting models prone to image distortion. On the other hand, cinematic rendering (CR), a three-dimensional visualization technique based on physically-based rendering methods, can create volumetric images with high fidelity. However, there are a lot of parameters involved in CR that affect the visualization results, thus being dependent on the user's experience and requiring detailed evaluation protocols to compare available solutions. In this study, we have analyzed the impact of the most relevant parameters in a CR pipeline developed in the open-source version of the MeVisLab framework for the visualization of the heart anatomy of three congenital patients and two adults from CT images. The resulting visualizations were compared to a commercial tool used in the clinics with a questionnaire filled in by clinic
Congenital heart disease (CHD) is a critical condition that demands early detection, particularly in infancy and childhood. This study presents a deep learning model designed to detect CHD using phonocardiogram (PCG) signals, with a focus on its application in global health. We evaluated our model on several datasets, including the primary dataset from Bangladesh, achieving a high accuracy of 94.1%, sensitivity of 92.7%, specificity of 96.3%. The model also demonstrated robust performance on the public PhysioNet Challenge 2022 and 2016 datasets, underscoring its generalizability to diverse populations and data sources. We assessed the performance of the algorithm for single and multiple auscultation sites on the chest, demonstrating that the model maintains over 85% accuracy even when using a single location. Furthermore, our algorithm was able to achieve an accuracy of 80% on low-quality recordings, which cardiologists deemed non-diagnostic. This research suggests that an AI- driven digital stethoscope could serve as a cost-effective screening tool for CHD in resource-limited settings, enhancing clinical decision support and ultimately improving patient outcomes.
In many pediatric fMRI studies, cardiac signals are often missing or of poor quality. A tool to extract Heart Rate Variation (HRV) waveforms directly from fMRI data, without the need for peripheral recording devices, would be highly beneficial. We developed a machine learning framework to accurately reconstruct HRV for pediatric applications. A hybrid model combining one-dimensional Convolutional Neural Networks (1D-CNN) and Gated Recurrent Units (GRU) analyzed BOLD signals from 628 ROIs, integrating past and future data. The model achieved an 8% improvement in HRV accuracy, as evidenced by enhanced performance metrics. This approach eliminates the need for peripheral photoplethysmography devices, reduces costs, and simplifies procedures in pediatric fMRI. Additionally, it improves the robustness of pediatric fMRI studies, which are more sensitive to physiological and developmental variations than those in adults.
Intracardiac flow patterns are shaped by the coupled motion of the cardiac chambers and heart valves and provide important information about cardiac function. However, clinical flow imaging remains limited by exam times, noise, resolution, and incomplete details of the three-dimensional flow. Computational fluid dynamics (CFD) can potentially provide detailed flow quantification and predictive insight into treatment outcomes, but clinical translation requires frameworks that reproduce patient-specific measurements while balancing physiological realism, computational cost, and modeling effort. Herein, we present an image-based, patient-specific computational framework for simulating whole-heart intracardiac hemodynamics that balances physiological fidelity with computational efficiency. The framework first employs machine learning-based segmentation and mesh propagation to reconstruct moving cardiac anatomies from time-resolved images. CFD simulations are then performed to resolve blood flow in deforming domains, while resistive immersed surfaces (RIS) are used to model all four cardiac valves with physiologically realistic opening and closing dynamics. The framework was applied to
3D printing has been widely adopted for clinical decision making and interventional planning of Congenital heart disease (CHD), while whole heart and great vessel segmentation is the most significant but time-consuming step in the model generation for 3D printing. While various automatic whole heart and great vessel segmentation frameworks have been developed in the literature, they are ineffective when applied to medical images in CHD, which have significant variations in heart structure and great vessel connections. To address the challenge, we leverage the power of deep learning in processing regular structures and that of graph algorithms in dealing with large variations and propose a framework that combines both for whole heart and great vessel segmentation in CHD. Particularly, we first use deep learning to segment the four chambers and myocardium followed by the blood pool, where variations are usually small. We then extract the connection information and apply graph matching to determine the categories of all the vessels. Experimental results using 683D CT images covering 14 types of CHD show that our method can increase Dice score by 11.9% on average compared with the stat
Congenital heart disease (CHD) refers to the abnormal anatomical structure caused by the abnormal development of the heart and great vessels during embryonic development. Traditional diagnostics often fail to achieve high accuracy and efficiency, especially given the complexity of cardiac anatomy. This study presents a specialized multi-view deep learning framework for CHD binary classification using echocardiographic images. A large-scale CHD dataset, including five views, was used to train the model, enabling it to integrate multi-angle image data. The framework utilizes advanced feature extraction and attention mechanisms to improve diagnostic precision and reliability. An uncertainty-based decision-making component is also integrated to handle low-quality images, enhancing diagnostic outcomes. Experimental results show that this method achieves top-tier performance on our dataset and provides a robust tool for early CHD detection, underscoring its potential for clinical use. The dataset and source code will be released upon paper acceptance.
Skull-stripping is the removal of background and non-brain anatomical features from brain images. While many skull-stripping tools exist, few target pediatric populations. With the emergence of multi-institutional pediatric data acquisition efforts to broaden the understanding of perinatal brain development, it is essential to develop robust and well-tested tools ready for the relevant data processing. However, the broad range of neuroanatomical variation in the developing brain, combined with additional challenges such as high motion levels, as well as shoulder and chest signal in the images, leaves many adult-specific tools ill-suited for pediatric skull-stripping. Building on an existing framework for robust and accurate skull-stripping, we propose developmental SynthStrip (d-SynthStrip), a skull-stripping model tailored to pediatric images. This framework exposes networks to highly variable images synthesized from label maps. Our model substantially outperforms pediatric baselines across scan types and age cohorts. In addition, the <1-minute runtime of our tool compares favorably to the fastest baselines. We distribute our model at https://w3id.org/synthstrip.
Children with congenital heart disease (CHD) often face challenges that require them to understand complex medical information from an early age in order to support lifelong care and improve health outcomes. However, prior research has rarely included young children in designing and evaluating digital tools to support health education using developmentally appropriate strategies. This study is part of a multi-phase research involving participatory design (PD), user testing, and iterative development. We present the design and refinement of a digital application that introduces basic information about CHD, including heart anatomy and healthy habits, through metaphor-based gameplay. User testing sessions with 30 children informed the redesign of interactive activities aligned with specific health conditions. Findings highlight usability, engagement, and comprehension outcomes and reveal design opportunities for supporting health literacy through serious game (SG) principles. These results inform the next phase, including further testing, refinement, and deployment in home and clinical settings.
Congenital Heart Disease (CHD) remains a leading cause of infant morbidity and mortality, yet non-invasive screening methods often yield false negatives. Deep learning models, with their ability to automatically extract features, can assist doctors in detecting CHD more effectively. In this work, we investigate the use of dual-modality (sound and image) deep learning methods for CHD diagnosis. We achieve 73.9% accuracy on the ZCHSound dataset and 80.72% accuracy on the DICOM Chest X-ray dataset.
Cardiopulmonary exercise testing (CPET) provides a comprehensive assessment of functional capacity by measuring key physiological variables including oxygen consumption ($VO_2$), carbon dioxide production ($VCO_2$), and pulmonary ventilation ($VE$) during exercise. Previous research has established that parameters such as peak $VO_2$ and $VE/VCO_2$ ratio serve as robust predictors of mortality risk in chronic heart failure patients. In this study, we leverage CPET variables as surrogate mortality endpoints for patients with Congenital Heart Disease (CHD). To our knowledge, this represents the first successful implementation of an advanced machine learning approach that predicts CPET outcomes by integrating electrocardiograms (ECGs) with information derived from clinical letters. Our methodology began with extracting unstructured patient information-including intervention history, diagnoses, and medication regimens-from clinical letters using natural language processing techniques, organizing this data into a structured database. We then digitized ECGs to obtain quantifiable waveforms and established comprehensive data linkages. The core innovation of our approach lies in exploiting
Virtual reality (VR) is increasingly used across psychology, from research and assessment to counseling, psychological treatment, and psychotherapy, with growing applications for children and adolescents. In these contexts, VR is often treated as a relatively neutral delivery medium. This assumption may be misleading. Most consumer head-mounted displays (HMDs) have been designed primarily for adult anthropometry, including adult interpupillary distance (IPD) ranges. As a result, some children may be excluded from participation or may receive a systematically degraded perceptual experience because the device cannot be adequately aligned to their visual anatomy. This paper argues that IPD constraints in consumer VR headsets represent an underrecognized methodological and clinical problem in pediatric psychology and psychotherapy. If headset fit affects visual comfort, depth perception, attentional load, cybersickness, willingness to remain in the simulation, and sense of presence, it may also influence engagement, emotional processing, dropout, and treatment response. The headset may therefore function as a selection mechanism, shaping who is included in studies, who can tolerate int
Congenital heart disease (CHD) screening from fetal echocardiography requires accurate analysis of multiple standard cardiac views, yet developing reliable artificial intelligence models remains challenging due to limited annotations and variable image quality. In this work, we propose FM-DACL, a semi-supervised Dual Agreement Consistency Learning framework for the FETUS 2026 challenge on fetal heart ultrasound segmentation and diagnosis. The method combines a pretrained ultrasound foundation model (EchoCare) with a convolutional network through heterogeneous co-training and an exponential moving average teacher to better exploit unlabeled data. Experiments on the multi-center challenge dataset show that FM-DACL achieves a Dice score of 59.66 and NSD of 42.82 using heterogeneous backbones, demonstrating the feasibility of the proposed semi-supervised framework. These results suggest that FM-DACL provides a flexible approach for leveraging heterogeneous models in low-annotation fetal cardiac ultrasound analysis. The code is available on https://github.com/13204942/FM-DACL.