SV-Cine: Diagnosis-Conditioned Segmentation of Single Ventricle Physiology via Generative Data Augmentation
Authors: Lila Cunge, Yuehong Liu, Hang Xu, Thomas Coudert, Pierangelo Renella, J Paul Finn, William Hsu, Kim-Lien Nguyen
Abstract
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.
Foundation models have shown strong transferability in cardiac MRI (CMR), but their effectiveness for heterogeneous multi-view and multi-sequence CMR analysis remains unclear. In this work, we explore the effectiveness of fine-tuning and combining different CMR foundation models for the Universal Multi-Sequence, Multi-Center and Multi-View CMR Segmentation (CMR-Multi) Challenge. CineMA was fine-tuned for cine and late gadolinium enhancement (LGE) segmentation across short-axis and long-axis views. For direct left-ventricular ejection fraction (LVEF) estimation, we used two recent frozen CMR foundation models to extract embedding vectors that were then combined using attention-based multiple-instance learning for LVEF regression. In the challenge validation set, cine segmentation achieved Dice scores of 0.862, 0.883, and 0.902 for short-axis, two-chamber and four-chamber cine MRI, respectively. LGE segmentation achieved Dice scores between 0.621 and 0.846 across views. The direct LVEF regression model achieved an MAE of 4.96 percentage points and a Pearson correlation of 0.91. These results indicate that foundation models can be effectively adapted and combined for multi-view CMR analysis, while accurate LGE scar segmentation remains a challenging task.
Automatic cardiac image segmentation is pivotal for diagnosing and treating cardiac diseases. In this work, we introduce MCSeg, a volumetric transformer-based network tailored for multi-modal cardiac segmentation. To overcome the architectural mismatch inherent in existing hybrid networks, we propose a novel Scaling Feature Pyramid (SFP). Unlike conventional skip connections, the SFP effectively bridges the single-scale 3D Vision Transformer (ViT) encoder and the multi-scale CNN decoder by transforming the ViT's output into a hierarchical feature pyramid, ensuring that global contextual information is effectively leveraged. For the training paradigm, the ViT encoder first undergoes self-supervised pre-training via masked image modeling. Subsequently, the network is fine-tuned on downstream tasks, during which a regional mutual information (RMI) loss is integrated to improve boundary segmentation accuracy. In experiments, MCSeg consistently outperforms eleven SOTA methods on CT dataset ImageCHD, multi-modal dataset MM-WHS, MRI dataset HVSMR-2.0 and MSD Heart, highlighting the effectiveness of our MCSeg for multi-modal cardiac segmentation tasks. Furthermore, MCSeg's superior performance in few-shot experiment showcases its significant potential in adapting to limited data scenarios. Codes and pre-trained ViT-B weights are open-sourced at https://openi.pcl.ac.cn/OpenMedIA/MCSeg
Cardiac motion over a cardiac cycle is crucial for quantifying regional function and is strongly affected by cardiovascular diseases. Since temporally dense mesh sequences are difficult to obtain in practice, we focus on leveraging the more accessible end-diastolic frame to infer a full-cycle sequence. Due to strong regional and disease-specific differences, traditional methods often oversmooth the data by relying on generative models that are optimized for global patterns. To address this problem, we propose Region-Aware and Phenotype-Adaptive Bi-Ventricular Cardiac Motion Synthesis (RePCM) for single frame Bi-ventricular mesh motion completion. In Stage I, a reconstruction network learns vertex wise motion descriptors and clustering yields a data driven functional partition, providing an explicit motion derived region structure. In Stage II, a Region-Specific Injection Module enforces masked, synchronized region exchange within a conditional VAE, preserving localized specific dynamics and restricting cross-region mixing. A Phenotype-Adaptive Mixture-of-Experts prior conditioned on ED shape uses anatomy-guided cues to model latent motion trends and capture inter-disease variability. Experiments on three datasets covering different cardiovascular diseases show consistent gains in geometric and functional metrics and improved preservation of region specific dynamics.