Aortic Valve Disease Detection from PPG via Physiology-Informed Self-Supervised Learning

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.

Artificial Intelligence-Enabled Spirometry for Early Detection of Right Heart Failure

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.