Beyond In-Distribution Metrics: A Systematic Out-of-Distribution Evaluation of Congenital Heart Disease Segmentation

Deep learning models for echocardiography segmentation often struggle to generalise across institutions, scanners, and patient populations, where collecting large, consistently annotated datasets is infeasible. Data augmentation is inexpensive and widely used to improve the robustness of deep learning models; however, its role in enhancing cross-dataset generalisability in echocardiography remains insufficiently understood. This study presents a large-scale multi-dataset evaluation of 29 data augmentation techniques and their pairwise combinations for 2D left ventricular segmentation using a U-Net trained on Unity, CAMUS, and EchoNet Dynamic datasets. Each augmentation was explored under several hyperparameter settings and assessed through repeated runs using Dice and IoU in both in-domain and cross-dataset scenarios, with statistical significance quantified via independent t-tests. In-domain accuracy was near-saturated and insensitive to augmentation, whereas cross-dataset performance varied widely. Geometry-based augmentations including affine, shift-scale-rotate, flip, and perspective produced the largest and most consistent gains, while aggressive intensity- and artefact-based transforms often degraded transfer. Moreover, pairwise combinations outperformed individual augmentations mainly when the two transformations were complementary, particularly by improving some difficult domain-shift cases from poor to acceptable performance. These findings provide empirical guidance for designing augmentation policies that improve the robustness and transferability of echocardiography segmentation models.

Purpose: To evaluate the feasibility and challenges of heart chamber segmentation from non-contrast CT scans using contrastive unpaired image translation and deep learning-based segmentation. Approach: We developed ChameleonNet, a framework utilizing the Contrastive Unpaired Translation (CUT) network with decoupled contrastive learning (DCL) loss to synthesize non-contrast CT from contrast CT scans. Using annotations of four heart chambers (left atrium (LA), left ventricle (LV), right atrium (RA), and right ventricle (RV)) from contrast scans, we trained a Hausdorff distance loss-enhanced nnU-Net on synthesized non-contrast images. The translation model was trained with 35,538 contrast-enhanced and 37,197 non-contrast CT slices. The segmentation model was trained with 292 synthesized non-contrast scans. Performance was evaluated using Dice similarity coefficient (DSC) and 95th Hausdorff distance (HD95) on 36 synthesized non-contrast scans, and volume agreement on 36 real non-contrast CT scans was assessed using Pearson correlation, mean absolute percentage error (MAPE), and mean percentage error (MPE). Results: The segmentation model achieved DSC of 0.94 (0.01), 0.91 (0.04), 0.92 (0.03), 0.93 (0.02), and HD95 of 3.63 (1.49), 5.74 (4.08), 5.18 (1.77), 5.51 (3.21) mm on synthesized non-contrast images for LA, LV, RA, and RV, respectively. On real non-contrast CT scans, Pearson correlations were 0.93, 0.82, 0.87, and 0.89 (all p<0.001), with MAPE ranging from 9.22% to 20.79%, and MPE ranging from -12.52% to 4.67%. Conclusions: ChameleonNet demonstrated feasibility for heart chamber segmentation from non-contrast CT without manual non-contrast annotations. However, volume errors, particularly for LV and RV, indicate that further refinement and validation are needed before clinical use.

Comprehensive quantification of cardiac structures from computed tomography (CT) remains limited not by data availability but by the scalability of measurements, which makes routine use impractical. Here we present a unified framework for comprehensive cardiac CT segmentation and phenotyping that combines a human-in-the-loop annotation pipeline, a cardiac CT augmentation technique, and a self-supervised foundation model pre-trained on 60,000 unlabeled cardiac CT scans. Using this approach, we assembled the largest and most comprehensive expert-annotated cardiac CT segmentation dataset to date, comprising 1598 cases and 14 distinct cardiac structures (1000 for training, 598 for the external test set). Across five external datasets, the framework segmented all structures more accurately and comprehensively than existing open-source tools. Self-supervised pre-training improved labeling efficiency, with the most significant gains observed during external evaluation in the low-data regime. Benchmarking across convolutional, transformer, and state-space architectures showed comparable performance, indicating that data quality and pre-training, rather than architecture, drove accuracy. The framework was scaled to population-level phenotyping, with segmented anatomy that carries functionally relevant information about ventricular function and disease severity beyond demographic variables. By openly releasing the largest dataset with human labels, code, model weights, a CT augmentation library, and software, this work provides a reproducible foundation for opportunistic cardiac phenotyping from routinely acquired CT scans.