An Ensemble Deep Learning Algorithm for Structural Heart Disease Screening Using Electrocardiographic Images: PRESENT SHD

ABSTRACT Background Identifying structural heart diseases (SHDs) early can change the course of the disease, but their diagnosis requires cardiac imaging, which is limited in accessibility. Objective To leverage images of 12-lead ECGs for automated detection and prediction of multiple SHDs using an ensemble deep learning approach. Methods We developed a series of convolutional neural network models for detecting a range of individual SHDs from images of ECGs with SHDs defined by transthoracic echocardiograms (TTEs) performed within 30 days of the ECG at the Yale New Haven Hospital (YNHH). SHDs were defined as LV ejection fraction <40%, moderate-to-severe left-sided valvular disease (aortic/mitral stenosis or regurgitation), or severe left ventricular hypertrophy (IVSd > 1.5cm and diastolic dysfunction). We developed an ensemble XGBoost model, PRESENT-SHD, as a composite screen across all SHDs. We validated PRESENT-SHD at 4 US hospitals and the prospective, population-based Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), with concurrent protocolized ECGs and TTEs. We also used PRESENT-SHD for risk stratification of new-onset SHD or heart failure (HF) in clinical cohorts and the population-based UK Biobank (UKB). Results The models were developed using 261,228 ECGs from 93,693 YNHH patients and evaluated on a single ECG from 11,023 individuals at YNHH (19% with SHD), 44,591 across external hospitals (20-27% with SHD), and 3,014 in the ELSA-Brasil (3% with SHD). In the held-out test set, PRESENT-SHD demonstrated an AUROC of 0.886 (0.877-894), 90% sensitivity, and 66% specificity. At hospital-based sites, PRESENT-SHD had AUROCs ranging from 0.854-0.900, with sensitivities and specificities of 93-96% and 51-56%, respectively. The model generalized well to ELSA-Brasil (AUROC, 0.853 [0.811-0.897], 88% sensitivity, 62% specificity). PRESENT-SHD demonstrated consistent performance across demographic subgroups, novel ECG formats, and smartphone photographs of ECGs from monitors and printouts. A positive PRESENT-SHD screen portended a 2- to 4-fold higher risk of new-onset SHD/HF, independent of demographics, comorbidities, and the competing risk of death across clinical sites and UKB, with high predictive discrimination. Conclusion We developed and validated PRESENT-SHD, an AI-ECG tool identifying a range of SHD using images of 12-lead ECGs, representing a robust, scalable, and accessible modality for automated SHD screening and risk stratification. CONDENSED ABSTRACT Screening for structural heart disorders (SHDs) requires cardiac imaging, which has limited accessibility. To leverage 12-lead ECG images for automated detection and prediction of multiple SHDs, we developed PRESENT-SHD, an ensemble deep learning model. PRESENT-SHD demonstrated excellent performance in detecting SHDs across 5 US hospitals and a population-based cohort in Brazil. The model successfully predicted the risk of new-onset SHD or heart failure in both US clinical cohorts and the community-based UK Biobank. By using ubiquitous ECG images and smartphone photographs to predict a composite outcome of multiple SHDs, PRESENT-SHD establishes a scalable paradigm for cardiovascular screening and risk stratification.