Robust and Explainable Bicuspid Aortic Valve Diagnosis Using Stacked Ensembles on Echocardiography
Christos Chrysanthos Nikolaidis, Vasileios Sachpekidis, Nikolas Moustakidis, Theofilos Moustakidis, Pavlos S. Efraimidis
TLDR
An explainable AI model accurately diagnoses bicuspid aortic valve (BAV) from tricuspid aortic valve (TAV) using routine echocardiography.
Key contributions
- Developed an explainable AI model for BAV/TAV diagnosis using parasternal long-axis (PLAX) echocardiography cine loops.
- Achieved high diagnostic performance with a stacked ensemble: F1-score of 0.907 and recall of 0.877 on 90 patient studies.
- Utilized Grad-CAM for evidence localization and SHAP for quantifying model contributions, ensuring case-level auditability.
Why it matters
Current BAV diagnosis varies with operator expertise; this AI model offers a robust, standardized solution, improving diagnostic consistency. Its explainability fosters trust, crucial for clinical adoption, potentially enabling earlier detection in non-specialist or resource-limited settings.
Original Abstract
Transthoracic echocardiography (TTE) is the first-line imaging modality for diagnosing bicuspid aortic valve (BAV), yet diagnostic performance varies with operator expertise and image quality. We developed an explainable AI model that distinguishes BAV from tricuspid aortic valves (TAV) using routinely acquired parasternal long-axis (PLAX) cine loops. A multi-backbone video ensemble was trained and evaluated using a leakage-aware, stratified outer cross-validation protocol on $N{=}90$ patient studies (48 BAV, 42 TAV). Across fixed outer splits and 10 random seeds, the calibrated stacked ensemble achieved an outer-CV F1-score of $0.907$ and recall of $0.877$. Frame-level Grad-CAM localized salient evidence to the aortic root and leaflet plane, while globally aggregated SHAP values quantified each video backbone's contribution to the stacked prediction, enabling transparent, case-level auditability. These findings indicate that PLAX-based video ensembles can support reliable BAV/TAV classification from routine echocardiographic cine loops and may facilitate earlier detection in non-specialist or resource-limited clinical settings.
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