National Institute of Health Data Science, Peking University, Beijing, China, Department of Emergency Medicine, Peking University First Hospital, Beijing, China
Abstract:Sleep disturbances are tightly linked to cardiovascular risk, yet polysomnography (PSG)-the clinical reference standard-remains resource-intensive and poorly suited for multi-night, home-based, and large-scale screening. Single-lead electrocardiography (ECG), already ubiquitous in Holter and patch-based devices, enables comfortable long-term acquisition and encodes sleep-relevant physiology through autonomic modulation and cardiorespiratory coupling. Here, we present a proof-of-concept Holter-to-Sleep framework that, using single-lead ECG as the sole input, jointly supports overnight sleep phenotyping and Holter-grade cardiac phenotyping within the same recording, and further provides an explicit analytic pathway for scalable cardio-sleep association studies. The framework is developed and validated on a pooled multi-center PSG sample of 10,439 studies spanning four public cohorts, with independent external evaluation to assess cross-cohort generalizability, and additional real-world feasibility assessment using overnight patch-ECG recordings via objective-subjective consistency analysis. This integrated design enables robust extraction of clinically meaningful overnight sleep phenotypes under heterogeneous populations and acquisition conditions, and facilitates systematic linkage between ECG-derived sleep metrics and arrhythmia-related Holter phenotypes. Collectively, the Holter-to-Sleep paradigm offers a practical foundation for low-burden, home-deployable, and scalable cardio-sleep monitoring and research beyond traditional PSG-centric workflows.
Abstract:Hyperkalemia is a life-threatening electrolyte disorder that is common in patients with chronic kidney disease and heart failure, yet frequent monitoring remains difficult outside hospital settings. We developed and validated Pocket-K, a single-lead AI-ECG system initialized from the ECGFounder foundation model for non-invasive hyperkalemia screening and handheld deployment. In this multicentre observational study using routinely collected clinical ECG and laboratory data, 34,439 patients contributed 62,290 ECG--potassium pairs. Lead I data were used to fine-tune the model. Data from Peking University People's Hospital were divided into development and temporal validation sets, and data from The Second Hospital of Tianjin Medical University served as an independent external validation set. Hyperkalemia was defined as venous serum potassium > 5.5 mmol/L. Pocket-K achieved AUROCs of 0.936 in internal testing, 0.858 in temporal validation, and 0.808 in external validation. For KDIGO-defined moderate-to-severe hyperkalemia (serum potassium >= 6.0 mmol/L), AUROCs increased to 0.940 and 0.861 in the temporal and external sets, respectively. External negative predictive value exceeded 99.3%. Model-predicted high risk below the hyperkalemia threshold was more common in patients with chronic kidney disease and heart failure. A handheld prototype enabled near-real-time inference, supporting future prospective evaluation in native handheld and wearable settings.
Abstract:The scarcity of high-quality data remains a primary bottleneck in adapting multimodal generative models for medical image editing. Existing medical image editing datasets often suffer from limited diversity, neglect of medical image understanding and inability to balance quality with scalability. To address these gaps, we propose MieDB-100k, a large-scale, high-quality and diverse dataset for text-guided medical image editing. It categorizes editing tasks into perspectives of Perception, Modification and Transformation, considering both understanding and generation abilities. We construct MieDB-100k via a data curation pipeline leveraging both modality-specific expert models and rule-based data synthetic methods, followed by rigorous manual inspection to ensure clinical fidelity. Extensive experiments demonstrate that model trained with MieDB-100k consistently outperform both open-source and proprietary models while exhibiting strong generalization ability. We anticipate that this dataset will serve as a cornerstone for future advancements in specialized medical image editing.
Abstract:Electrocardiography (ECG) serves as an indispensable diagnostic tool in clinical practice, yet existing multimodal large language models (MLLMs) remain unreliable for ECG interpretation, often producing plausible but clinically incorrect analyses. To address this, we propose ECG-R1, the first reasoning MLLM designed for reliable ECG interpretation via three innovations. First, we construct the interpretation corpus using \textit{Protocol-Guided Instruction Data Generation}, grounding interpretation in measurable ECG features and monograph-defined quantitative thresholds and diagnostic logic. Second, we present a modality-decoupled architecture with \textit{Interleaved Modality Dropout} to improve robustness and cross-modal consistency when either the ECG signal or ECG image is missing. Third, we present \textit{Reinforcement Learning with ECG Diagnostic Evidence Rewards} to strengthen evidence-grounded ECG interpretation. Additionally, we systematically evaluate the ECG interpretation capabilities of proprietary, open-source, and medical MLLMs, and provide the first quantitative evidence that severe hallucinations are widespread, suggesting that the public should not directly trust these outputs without independent verification. Code and data are publicly available at \href{https://github.com/PKUDigitalHealth/ECG-R1}{here}, and an online platform can be accessed at \href{http://ai.heartvoice.com.cn/ECG-R1/}{here}.
Abstract:Traditional diagnosis of aortic valve disease relies on echocardiography, but its cost and required expertise limit its use in large-scale early screening. Photoplethysmography (PPG) has emerged as a promising screening modality due to its widespread availability in wearable devices and its ability to reflect underlying hemodynamic dynamics. However, the extreme scarcity of gold-standard labeled PPG data severely constrains the effectiveness of data-driven approaches. To address this challenge, we propose and validate a new paradigm, Physiology-Guided Self-Supervised Learning (PG-SSL), aimed at unlocking the value of large-scale unlabeled PPG data for efficient screening of Aortic Stenosis (AS) and Aortic Regurgitation (AR). Using over 170,000 unlabeled PPG samples from the UK Biobank, we formalize clinical knowledge into a set of PPG morphological phenotypes and construct a pulse pattern recognition proxy task for self-supervised pre-training. A dual-branch, gated-fusion architecture is then employed for efficient fine-tuning on a small labeled subset. The proposed PG-SSL framework achieves AUCs of 0.765 and 0.776 for AS and AR screening, respectively, significantly outperforming supervised baselines trained on limited labeled data. Multivariable analysis further validates the model output as an independent digital biomarker with sustained prognostic value after adjustment for standard clinical risk factors. This study demonstrates that PG-SSL provides an effective, domain knowledge-driven solution to label scarcity in medical artificial intelligence and shows strong potential for enabling low-cost, large-scale early screening of aortic valve disease.
Abstract:Cardiac Magnetic Resonance (CMR) imaging provides a comprehensive assessment of cardiac structure and function but remains constrained by high acquisition costs and reliance on expert annotations, limiting the availability of large-scale labeled datasets. In contrast, electrocardiograms (ECGs) are inexpensive, widely accessible, and offer a promising modality for conditioning the generative synthesis of cine CMR. To this end, we propose ECGFlowCMR, a novel ECG-to-CMR generative framework that integrates a Phase-Aware Masked Autoencoder (PA-MAE) and an Anatomy-Motion Disentangled Flow (AMDF) to address two fundamental challenges: (1) the cross-modal temporal mismatch between multi-beat ECG recordings and single-cycle CMR sequences, and (2) the anatomical observability gap due to the limited structural information inherent in ECGs. Extensive experiments on the UK Biobank and a proprietary clinical dataset demonstrate that ECGFlowCMR can generate realistic cine CMR sequences from ECG inputs, enabling scalable pretraining and improving performance on downstream cardiac disease classification and phenotype prediction tasks.
Abstract:Background: Conventional electrocardiogram (ECG) analysis faces a persistent dichotomy: expert-driven features ensure interpretability but lack sensitivity to latent patterns, while deep learning offers high accuracy but functions as a black box with high data dependency. We introduce ECGomics, a systematic paradigm and open-source platform for the multidimensional deconstruction of cardiac signals into digital biomarker. Methods: Inspired by the taxonomic rigor of genomics, ECGomics deconstructs cardiac activity across four dimensions: Structural, Intensity, Functional, and Comparative. This taxonomy synergizes expert-defined morphological rules with data-driven latent representations, effectively bridging the gap between handcrafted features and deep learning embeddings. Results: We operationalized this framework into a scalable ecosystem consisting of a web-based research platform and a mobile-integrated solution (https://github.com/PKUDigitalHealth/ECGomics). The web platform facilitates high-throughput analysis via precision parameter configuration, high-fidelity data ingestion, and 12-lead visualization, allowing for the systematic extraction of biomarkers across the four ECGomics dimensions. Complementarily, the mobile interface, integrated with portable sensors and a cloud-based engine, enables real-time signal acquisition and near-instantaneous delivery of structured diagnostic reports. This dual-interface architecture successfully transitions ECGomics from theoretical discovery to decentralized, real-world health management, ensuring professional-grade monitoring in diverse clinical and home-based settings. Conclusion: ECGomics harmonizes diagnostic precision, interpretability, and data efficiency. By providing a deployable software ecosystem, this paradigm establishes a robust foundation for digital biomarker discovery and personalized cardiovascular medicine.
Abstract:Background: Artificial intelligence enabled electrocardiography (AI-ECG) has demonstrated the ability to detect diverse pathologies, but most existing models focus on single disease identification, neglecting comorbidities and future risk prediction. Although ECGFounder expanded cardiac disease coverage, a holistic health profiling model remains needed. Methods: We constructed a large multicenter dataset comprising 13.3 million ECGs from 2.98 million patients. Using transfer learning, ECGFounder was fine-tuned to develop AnyECG, a foundation model for holistic health profiling. Performance was evaluated using external validation cohorts and a 10-year longitudinal cohort for current diagnosis, future risk prediction, and comorbidity identification. Results: AnyECG demonstrated systemic predictive capability across 1172 conditions, achieving an AUROC greater than 0.7 for 306 diseases. The model revealed novel disease associations, robust comorbidity patterns, and future disease risks. Representative examples included high diagnostic performance for hyperparathyroidism (AUROC 0.941), type 2 diabetes (0.803), Crohn disease (0.817), lymphoid leukemia (0.856), and chronic obstructive pulmonary disease (0.773). Conclusion: The AnyECG foundation model provides substantial evidence that AI-ECG can serve as a systemic tool for concurrent disease detection and long-term risk prediction.
Abstract:Accurate mortality risk prediction for intensive care unit (ICU) patients is essential for clinical decision-making. Although large language models (LLMs) show promise in predicting outcomes from structured medical data, their predictions may exhibit demographic biases related to sex, age, and race, limiting their trustworthy use in clinical practice. Existing debiasing methods often reduce predictive performance, making it difficult to jointly optimize fairness and accuracy. In this study, we systematically examine bias in LLM-based ICU mortality prediction and propose a training-free, clinically adaptive prompting framework to simultaneously improve fairness and performance. We first develop a multi-dimensional bias assessment scheme for comprehensive model diagnosis. Building on this analysis, we introduce CAse Prompting (CAP), a novel prompting framework that integrates conventional debiasing prompts with case-based reasoning. CAP guides the model to learn from similar historical misprediction cases and their correct outcomes, enabling correction of biased reasoning patterns. Experiments on the MIMIC-IV dataset show that CAP substantially improves both predictive accuracy and fairness. CAP increases AUROC from 0.806 to 0.873 and AUPRC from 0.497 to 0.694, while reducing sex- and race-related disparities by over 90%. Feature reliance analysis further indicates highly consistent attention patterns across demographic groups, with similarity scores exceeding 0.98. These results demonstrate that LLMs exhibit measurable bias in ICU mortality prediction, and that a carefully designed prompting framework can effectively co-optimize fairness and performance without retraining, offering a transferable paradigm for equitable clinical decision support.
Abstract:Right heart failure (RHF) is a disease characterized by abnormalities in the structure or function of the right ventricle (RV), which is associated with high morbidity and mortality. Lung disease often causes increased right ventricular load, leading to RHF. Therefore, it is very important to screen out patients with cor pulmonale who develop RHF from people with underlying lung diseases. In this work, we propose a self-supervised representation learning method to early detecting RHF from patients with cor pulmonale, which uses spirogram time series to predict patients with RHF at an early stage. The proposed model is divided into two stages. The first stage is the self-supervised representation learning-based spirogram embedding (SLSE) network training process, where the encoder of the Variational autoencoder (VAE-encoder) learns a robust low-dimensional representation of the spirogram time series from the data-augmented unlabeled data. Second, this low-dimensional representation is fused with demographic information and fed into a CatBoost classifier for the downstream RHF prediction task. Trained and tested on a carefully selected subset of 26,617 individuals from the UK Biobank, our model achieved an AUROC of 0.7501 in detecting RHF, demonstrating strong population-level distinction ability. We further evaluated the model on high-risk clinical subgroups, achieving AUROC values of 0.8194 on a test set of 74 patients with chronic kidney disease (CKD) and 0.8413 on a set of 64 patients with valvular heart disease (VHD). These results highlight the model's potential utility in predicting RHF among clinically elevated-risk populations. In conclusion, this study presents a self-supervised representation learning approach combining spirogram time series and demographic data, demonstrating promising potential for early RHF detection in clinical practice.