用自监督学习提升罕见心脏病的检测公平性,避免不同人群诊断差异。
Demographic-Aware Self-Supervised Anomaly Detection Pretraining for Equitable Rare Cardiac Diagnosis
- 通过掩码重建和属性预测学习无标签心电图特征,实现自监督预训练。
- 罕见异常检测AUROC达94.7%,常见与罕见病性能差距缩小73%。
- 适合关注医疗公平性、心电图分析与可解释异常定位的研究者。
由于罕见心脏异常存在长尾分布且病例极少,加之诊断性能在不同人群间存在差异,导致其在心电图(ECG)中难以检测。这一问题造成诊断延迟和医疗质量不均,亟需一种具备泛化能力且保障公平性的通用框架,在提升敏感度的同时兼顾多样性人群的诊断一致性。本研究提出一个两阶段AI辅助心电图分析框架,结合自监督异常检测与人口统计学感知表示学习。第一阶段通过重建掩码的全局与局部心电信号、建模信号趋势及预测患者属性,实现无诊断标签的鲁棒心电图表征学习。预训练模型随后使用非对称损失进行多标签分类微调,以更好应对长尾心脏异常,并生成异常评分图用于定位;同时采用基于CPU的优化策略支持实际部署。在超百万例临床心电图的纵向队列上评估,该方法对罕见异常的AUROC达到94.7%,常见-罕见性能差距降低73%,且在不同年龄与性别群体中保持一致的诊断准确率。结果表明,所提出的公平导向AI框架具备强临床实用性、可解释的异常定位能力以及跨队列的可扩展性能,有望缓解诊断差异,推动生物医学信号与数字健康中的公平异常检测。源代码见:https://github.com/MediaBrain-SJTU/Rare-ECG。
原文摘要 · Abstract (English)
Rare cardiac anomalies are difficult to detect from electrocardiograms (ECGs) due to their long-tailed distribution with extremely limited case counts and demographic disparities in diagnostic performance. These limitations contribute to delayed recognition and uneven quality of care, creating an urgent need for a generalizable framework that enhances sensitivity while ensuring equity across diverse populations. In this study, we developed an AI-assisted two-stage ECG framework integrating self-supervised anomaly detection with demographic-aware representation learning. The first stage performs self-supervised anomaly detection pretraining by reconstructing masked global and local ECG signals, modeling signal trends, and predicting patient attributes to learn robust ECG representations without diagnostic labels. The pretrained model is then fine-tuned for multi-label ECG classification using asymmetric loss to better handle long-tail cardiac abnormalities, and additionally produces anomaly score maps for localization, with CPU-based optimization enabling practical deployment. Evaluated on a longitudinal cohort of over one million clinical ECGs, our method achieves an AUROC of 94.7% for rare anomalies and reduces the common-rare performance gap by 73%, while maintaining consistent diagnostic accuracy across age and sex groups. In conclusion, the proposed equity-aware AI framework demonstrates strong clinical utility, interpretable anomaly localization, and scalable performance across multiple cohorts, highlighting its potential to mitigate diagnostic disparities and advance equitable anomaly detection in biomedical signals and digital health. Source code is available at https://github.com/MediaBrain-SJTU/Rare-ECG.
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