Congenital heart disease

Automated Echocardiographic Detection of Congenital Heart Disease Using Artificial Intelligence

CirculationPublished Diagnostic accuracy study

Authors' conclusion

EchoFocus-CHD shows promise for automated CHD detection to advance equitable global cardiovascular care

Study context

Population
Patients undergoing echo for congenital heart disease (CHD) detection (internal median age 7.1 years; referral median age 2.5 years)counts are echos
Participants
54,727 vs 3,356
Comparison
Internal vs Referral
  • Internaln = 54,727
  • Referraln = 3,356
Outcome
Detection of composite critical CHD by EchoFocus-CHD
Methodological detailsAI model development, internal training (80%) and testing (20%), external referral cohort evaluation
  • AI model development
  • Internal training (80%) and testing (20%)
  • External referral cohort evaluation

Performance

As reported in the abstract

Composite critical CHD detection
Test or modelAUROCPositive likelihood ratioNegative likelihood ratio
Internal0.947.500.14
Referral0.77Not reported in the abstractNot reported in the abstract

AUROC

Internal0.94
Referral0.77

Positive likelihood ratio

Internal7.50
ReferralNot reported in the abstract

Negative likelihood ratio

Internal0.14
ReferralNot reported in the abstract

Further findings

κ

OutcomeInternalReferral
Expert agreement0.820.72
Individual critical lesions (internal)
0.83-1.00 · AUROC
Composite noncritical CHD (internal)
0.90 · AUROC · Positive likelihood ratio 5.00 · Negative likelihood ratio 0.23
Individual noncritical lesions (internal)
0.70-0.96 · AUROC

International critical CHD detection after retraining on all US patients

AUROC
0.87
  • Domain shift attenuated; calibration improved

Original publication

Automated Echocardiographic Detection of Congenital Heart Disease Using Artificial Intelligence. Circulation. Published 28 March 2026. doi:10.1161/circulationaha.126.079781

Summarised from the published abstract; every number is checked against it

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