Automated Echocardiographic Detection of Congenital Heart Disease Using Artificial Intelligence

Background: Delayed or missed diagnosis of congenital heart disease (CHD) contributes to excess pediatric mortality worldwide. Echocardiography (echo) is central to diagnosing and triaging CHD, yet expert interpretation remains a scarce and maldistributed global resource. Artificial intelligence (AI) offers the potential to democratize diagnostics and extend expert-level interpretation beyond large academic centers, but its application in CHD remains underexplored. Methods: We developed EchoFocus-CHD, an AI-enabled model for automated detection of 12 critical and 8 non-critical CHD lesions, individually and as composites. The composite critical CHD outcome was the primary endpoint. The model expands on a multi-task, view-agnostic architecture (PanEcho) with a transformer encoder to improve focus on relevant echo views. The model was internally trained (80%) and tested (20%) on the first echo per patient from Boston Children’s Hospital (BCH), with further evaluation on a referral cohort of echo studies performed at external US and international centers. Results: The internal and referral cohorts included 3.4 million videos from 54,727 echos (median age at echo 7.1 IQR, 0.2-15.0 years; 5.8% critical CHD; 23.6% non-critical CHD) and 167,484 videos from 3,356 echos (median age at echo 2.5 IQR, 0.3-9.4 years; 29.4% critical CHD; 45.6% non-critical CHD), respectively. EchoFocus-CHD showed excellent internal ability to detect the composite critical CHD outcome (AUROC 0.94, LR+ 7.50, LR- 0.14) and individual critical lesions (AUROC 0.83-1.00), as well as composite non-critical CHD (AUROC 0.90, LR+ 5.00, LR- 0.23) and individual non-critical lesions (AUROC 0.70-0.96). Performance declined during evaluation on the referral cohort to detect critical CHD (AUROC 0.77), coinciding with greater expert disagreement on referral cases (k=0.72 versus 0.82 for internal cases). Explainability analyses demonstrated that the model prioritized the same clinically relevant views (parasternal long-axis, parasternal short-axis, subxiphoid long-axis, apical) across internal and referral cohorts, while UMAP analysis revealed a domain shift between cohorts. Retraining on all available US patients attenuated domain shift effects, improving international critical CHD detection (AUROC 0.87) and calibration. Conclusions: EchoFocus-CHD shows promise for automated CHD detection to advance equitable global cardiovascular care, and highlights the need to address domain shift and establish external validation prior to real-world deployment.