Automated detection of pediatric congenital heart disease from phonocardiograms using deep and handcrafted feature fusion

Congenital heart disease (CHD) is the most common type of birth defect, impacting about 1% of live births worldwide. Echocardiography, the gold-standard diagnostic method, is costly and inaccessible in low-resource settings. Diagnosis is delayed due to limited skilled experts, whose ability to interpret pathological patterns varies significantly, causing inter- and intra-clinician variability. Therefore, we present a new method for a more accessible diagnostic modality, the digital stethoscope, to detect CHDs. Our method is based on deep feature fusion, integrating deep and handcrafted features for the automated early detection of CHDs. For this work, Phonocardiography (PCG) recordings were obtained from 751 pediatric subjects (Age:1 month- 16 years) in Bangladesh, ranging from infants to adults at four auscultation locations: mitral valve (MV), aortic valve (AV), pulmonary valve (PV), and tricuspid valve (TV). These recordings were labeled based on confirmed diagnoses by cardiologists as either cases of CHD or non-CHD. The results demonstrated that our proposed model achieved an accuracy of 92%, a sensitivity of 91%, and a specificity of 91%, based on a patient-wise split of 70% training, 20% validation, and 10% testing. Furthermore, the Area Under the Receiver Operating Characteristic curve (AUROC) of 96%, and an F1-score of 92%. This model promises efficient real-time remote detection of CHDs as a cost-effective screening tool for low-resource settings.