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Updated: Nov 22, 2025

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
Published on: December 16, 2022
Automated interpretation of congenital heart disease from multi-view echocardiograms
Jing Wang1, Xiaofeng Liu2, Fangyun Wang3
1Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, 10069, China.
Insights
This study developed an AI framework to automatically diagnose congenital heart disease (CHD) from echocardiograms. The models achieve high accuracy in identifying CHD, ventricular septal defect (VSD), and atrial septal defect (ASD), aiding early diagnosis.
Area of Science:
- Medical Imaging
- Artificial Intelligence
- Cardiology
Background:
- Congenital heart disease (CHD) is a leading cause of neonatal mortality in China.
- Current clinical diagnosis relies on 2D key-frames from multiple echocardiogram views, often limited by data availability.
- Existing methods struggle with single-view analysis due to insufficient multi-view data.
Purpose of the Study:
- To develop an automated, end-to-end framework for analyzing multi-view echocardiograms for CHD diagnosis.
- To improve diagnostic accuracy and efficiency in identifying CHD, VSD, and ASD.
- To reduce reliance on manual key-frame selection and view annotation in clinical practice.
Main Methods:
- Collected five-view echocardiogram videos from 1308 subjects (normal, VSD, ASD) with labels.
- Utilized depthwise separable convolution-based multi-channel networks to reduce parameters.
- Developed an adaptive soft attention scheme for direct raw video analysis and investigated neural aggregation methods for frame fusion.
- Incorporated a view detection module for operation without view records.
Main Results:
- The 2D key-frame model achieved 95.4% accuracy for CHD diagnosis and 92.3% for VSD/ASD classification.
- The video-based model, without key-frame selection, reached 93.9% accuracy (binary) and 92.1% (3-class) on a test set.
- The system demonstrated high diagnostic rates for VSD and ASD.
Conclusions:
- The proposed automated framework accurately diagnoses CHD, VSD, and ASD from echocardiograms.
- The video-based approach alleviates the need for manual key-frame selection and view annotation.
- This technology has potential for clinical application to improve CHD diagnosis rates and facilitate early treatment in China.
Abstract:
Congenital heart disease (CHD) is the most common birth defect and the leading cause of neonate death in China. Clinical diagnosis can be based on the selected 2D key-frames from five views. Limited by the availability of multi-view data, most methods have to rely on the insufficient single view analysis. This study proposes to automatically analyze the multi-view echocardiograms with a practical end-to-end framework. We collect the five-view echocardiograms video records of 1308 subjects (including normal controls, ventricular septal defect (VSD) patients and atrial septal defect (ASD) patients) with both disease labels and standard-view key-frame labels. Depthwise separable convolution-based multi-channel networks are adopted to largely reduce the network parameters. We also approach the imbalanced class problem by augmenting the positive training samples. Our 2D key-frame model can diagnose CHD or negative samples with an accuracy of 95.4%, and in negative, VSD or ASD classification with an accuracy of 92.3%. To further alleviate the work of key-frame selection in real-world implementation, we propose an adaptive soft attention scheme to directly explore the raw video data. Four kinds of neural aggregation methods are systematically investigated to fuse the information of an arbitrary number of frames in a video. Moreover, with a view detection module, the system can work without the view records. Our video-based model can diagnose with an accuracy of 93.9% (binary classification), and 92.1% (3-class classification) in a collected 2D video testing set, which does not need key-frame selection and view annotation in testing. The detailed ablation study and the interpretability analysis are provided. The presented model has high diagnostic rates for VSD and ASD that can be potentially applied to the clinical practice in the future. The short-term automated machine learning process can partially replace and promote the long-term professional training of primary doctors, improving the primary diagnosis rate of CHD in China, and laying the foundation for early diagnosis and timely treatment of children with CHD.
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