SV-Cine: Diagnosis-Conditioned Segmentation of Single Ventricle Physiology via Generative Data Augmentation

RESUMO

Single Ventricle Physiology (SVP) is a rare subtype of congenital heart disease characterized by the presence of a single functional cardiac ventricle with atypical anatomic configurations that challenge conventional image segmentation approaches. The scarcity of clinical data and the morphological diversity across SVP subtypes make the development of robust segmentation methods particularly difficult. To address these limitations, we propose a cardiac MRI segmentation framework focused on ventricular chambers and myocardium segmentation tailored for SVP. First, we introduce a data augmentation pipeline that generates synthetic 3D cardiac meshes using SDF4CHD and corresponding synthetic cardiac MRI through generative modeling. Second, we introduce SV-Cine, a diagnosis-conditioned adaptation of the foundation model CineMA that incorporates patient-level diagnostic information through Feature-wise Linear Modulation layers, enabling diagnosis-aware feature adaptation during segmentation. We evaluated the framework on an internal cohort with varying SVP subtypes. SV-Cine achieved median Dice scores of 0.89 (IQR: 0.80--0.91) for the left ventricle and 0.72 (IQR: 0.54--0.84) for the right ventricle, outperforming the strongest baseline, nnU-Net, by 0.39 Dice points on right ventricle segmentation. It also yields a median ejection fraction error of 5.55 percentage points (IQR: 3.41--7.69) for the dominant ventricle. Compared with the internal cohort, LV and myocardium segmentation performance was lower for the external cohort; whereas RV Dice scores were comparable for both cohorts. Our findings suggest that a pretrained foundation model can be adapted for highly specialized downstream tasks through usage of diagnosis priors while leveraging anatomic knowledge learned from large-scale MRI datasets during pretraining.