Multimodal Fusion of Echocardiogram Images and Electronic Medical Records for Heart Disease Screening: Retrospective Algorithm Development and Validation Study
Clinical Snapshot
PICO Framework
| P — Population | 26,936 patients with linked echocardiogram and electronic medical records (1,470 with clinically confirmed heart disease, 25,466 without) |
| I — Intervention | Multimodal artificial intelligence framework integrating echocardiogram images and EMR data using extreme gradient boosting classifier |
| C — Comparator | Image-only and EMR-only diagnostic approaches |
| O — Outcomes | Diagnostic accuracy for heart disease screening (AUC, sensitivity, specificity, PPV, NPV) |
Bottom Line
This retrospective study demonstrates that combining echocardiographic images with electronic medical record data using machine learning can improve heart disease screening accuracy compared to either modality alone. The multimodal approach achieved an AUC of 0.81 with high sensitivity (84.6%) and negative predictive value (98.8%), suggesting potential utility as a screening tool. However, the low positive predictive value (15%) and single-center design limit immediate clinical applicability. The study provides valuable proof-of-concept for multimodal diagnostic approaches but requires external validation, clearer reference standards, and prospective evaluation before clinical implementation. The explainability features are promising for clinical acceptance, but the technical complexity may challenge routine deployment in current healthcare workflows.
Key Findings
P Value: Not reported for primary comparison
Effect Size: AUC 0.8147 (multimodal) vs 0.7785 (image-only) vs 0.7343 (EMR-only)
Primary Outcome: Area under the ROC curve for heart disease detection
Nnt Or Sensitivity: Sensitivity 84.6%, Specificity 72.4%, PPV 15%, NPV 98.8%
Confidence Interval: Not reported - only standard deviations provided
Clinical Application
Requires significant technical infrastructure for multimodal data integration and processing; implementation complexity may limit adoption Potential application in Australian public hospitals with integrated EMR systems; would need validation against Australian population and healthcare coding systems before TGA consideration Patients undergoing echocardiography with available electronic medical records in healthcare systems with similar data infrastructure
Abstract
BACKGROUND: Echocardiography is a fundamental imaging modality for the diagnosis of heart disease (HD), but its interpretation remains operator-dependent and lacks standardized, data-driven decision support. Although artificial intelligence has improved image-based diagnosis, the added value and interpretability of integrating routinely collected electronic medical records (EMRs) with echocardiogram (ECHO) for large-scale screening remain underexplored. OBJECTIVE: This study aims to develop an explainable artificial intelligence framework that integrates multimodal data, including ECHO images and EMRs, with derived temporal and clinical features, to enhance the screening and interpretability of heart disease diagnosis. METHODS: In this retrospective single-center study, we analyzed 26,936 patients with linked ECHO and EMR records (1470 with clinically confirmed HD and 25,466 without). We constructed cross-sectional EMR features (demographics, comorbidities, and registration history) and extracted view-specific image features with a simplified Inception-v3 backbone. Five modality-specific feature vectors (4 imaging views + EMR) were concatenated and input to an extreme gradient boosting classifier within a patient-level stratified 5-fold cross-validation framework. To mitigate class imbalance during training, non-HD cases in the training folds were randomly downsampled to a 1:3 HD:non-HD ratio; held-out test folds preserved the original prevalence. Post hoc explainability was provided via Grad-CAM heatmaps for images and Shapley additive explanations analysis for EMR features. RESULTS: For the primary binary task (presence vs absence of HD), the multimodal model achieved an AUC of 0.8147 (SD 0.009) on held-out test folds, compared with 0.7785 (SD 0.014) for the image-only baseline, and 0.7343 (SD 0.009) for the EMR-only baseline. At the clinically selected decision threshold, sensitivity, specificity, positive predictive value, and negative predictive value were 84.6% (SD 1.6%), 72.4% (SD 2%), 15% (SD 2.3%), 98.8% (SD 0.3%) for the multimodal model, versus 82.3% (SD 1.9%), 73.5% (SD 2%), 15.2% (SD 2.1%), 98.6% (SD 0.3%) (image-only), and 77.5% (SD 2.1%), 67% (SD 2.3%), 11.9% (SD 1.7%), 98.1% (SD 0.4%) (EMR-only). Grad-CAM visualizations qualitatively highlighted anatomically and physiologically meaningful regions (eg, valvular structures and abnormal flow jets), while Shapley additive explanations analysis identified age, registration years, sex, and hypertension among the top EMR contributors-findings that align with established cardiovascular risk factors. CONCLUSIONS: Integrating echocardiographic images and EMR data in an explainable multimodal framework yields improved and clinically plausible screening performance for heart disease. Future work should focus on external multicenter validation, quantitative assessment of visual explanations against expert annotations, and prospective studies assessing clinical use and workflow integration.
References
- 1.Yang, B., Qin, Y., Li, Y., Xie, R., Jiang, L., He, J., Liu, J., & Cai, Y. (2026). Multimodal fusion of echocardiogram images and electronic medical records for heart disease screening: Retrospective algorithm development and validation study. JMIR Medical Informatics. https://doi.org/10.1002/ima.22885
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