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Identification of Congenital Valvular Murmurs in Young Patients Using Deep Learning-Based Attention Transformers and
Insights
A new deep learning model automates congenital heart disease (CHD) detection using heart sound recordings (phonocardiography). This cost-effective tool aids early diagnosis in young patients, overcoming limitations of traditional echocardiography.
Area of Science:
- Biomedical Engineering
- Artificial Intelligence in Medicine
- Cardiology
Background:
- Congenital heart disease (CHD) affects 25% of newborns, necessitating early diagnosis.
- Current diagnostic methods like echocardiography are expert-dependent, costly, and time-consuming.
- Low- and middle-income countries face significant barriers to accessing timely CHD diagnosis.
Purpose of the Study:
- To develop and validate a deep learning model for automated detection of heart murmurs indicative of CHD.
- To utilize phonocardiography (PCG) as a cost-effective and accessible diagnostic tool.
- To improve early detection rates of heart anomalies in pediatric populations.
Main Methods:
- A deep learning-based attention transformer model was developed.
- Phonocardiography (PCG) recordings from 942 young patients across four auscultation locations were analyzed.
- Wavelet features were used for dimensionality reduction prior to deep learning inference.
- The model was validated using 10-fold cross-validation.
Main Results:
- The model achieved an average accuracy of 90.23% and sensitivity of 72.41% in detecting murmurs.
- Discrimination between murmur absence and presence reached 76.10% accuracy on unseen data.
- Accuracies for predicting murmur presence were 70% (infants), 88% (children), and 86% (adolescents).
- Model interpretation highlighted the importance of specific auscultation locations (AV, MV, TV) for prediction.
Conclusions:
- Deep learning applied to PCG recordings offers a powerful, cost-effective tool for early CHD detection in young individuals.
- The model can serve as a frontline diagnostic aid, reducing reliance on high-cost equipment and expert interpretation.
- This approach has the potential to significantly improve CHD diagnosis accessibility, particularly in resource-limited settings.
Abstract:
One in every four newborns suffers from congenital heart disease (CHD) that causes defects in the heart structure. The current gold-standard assessment technique, echocardiography, causes delays in the diagnosis owing to the need for experts who vary markedly in their ability to detect and interpret pathological patterns. Moreover, echo is still causing cost difficulties for low- and middle-income countries. Here, we developed a deep learning-based attention transformer model to automate the detection of heart murmurs caused by CHD at an early stage of life using cost-effective and widely available phonocardiography (PCG). PCG recordings were obtained from 942 young patients at four major auscultation locations, including the aortic valve (AV), mitral valve (MV), pulmonary valve (PV), and tricuspid valve (TV), and they were annotated by experts as absent, present, or unknown murmurs. A transformation to wavelet features was performed to reduce the dimensionality before the deep learning stage for inferring the medical condition. The performance was validated through 10-fold cross-validation and yielded an average accuracy and sensitivity of 90.23 % and 72.41 %, respectively. The accuracy of discriminating between murmurs' absence and presence reached 76.10 % when evaluated on unseen data. The model had accuracies of 70 %, 88 %, and 86 % in predicting murmur presence in infants, children, and adolescents, respectively. The interpretation of the model revealed proper discrimination between the learned attributes, and AV channel was found important (score 0.75) for the murmur absence predictions while MV and TV were more important for murmur presence predictions. The findings potentiate deep learning as a powerful front-line tool for inferring CHD status in PCG recordings leveraging early detection of heart anomalies in young people. It is suggested as a tool that can be used independently from high-cost machinery or expert assessment.
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Auscultation is the process of listening to these internal body sounds using a stethoscope. The heart produces four types of sounds, but only two—S1 and S2—can usually be heard with a stethoscope.
S1, also known as the "lub" sound, is caused by the closure of atrioventricular (A-V)...

