Arrhythmias & electrophysiologyDiagnostic or prognostic study

Deep Learning–Augmented Electrocardiography (ECG) Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome

JAMA CardiolPublished

  • Diagnostic accuracy study
  • multicentre
  • external validation
  • cross-sectional validation

Authors' conclusion

The deep learning model improved detection of congenital LQTS from resting ECGs and allowed for differentiation between the 2 most common genetic subtypes.

Study context

Population
Patients with suspected inherited arrhythmia (HiRO Registry, 2012–2021); Long QT syndrome (LQTS) cohort = probands and relatives with pathogenic or likely pathogenic KCNQ1 or KCNH2 variants
Participants
990 patients · 4,521 ECGs
Comparison
Convolutional neural network (CNN)-based ECG analysis vs QTc-based detection
Outcome
AUC, F1 score and sensitivity for detecting LQTS and differentiating genotypes (LQTS1 vs LQTS2)

Performance

As reported in the abstract

LQTS detection, external validation (101 patients)
Test or modelAUCF1 scoreSensitivityAUC, genotype differentiation
CNN0.93 (95% CI, 0.89-0.96)0.84 (95% CI, 0.78-0.90)0.90 (95% CI, 0.86-0.94)0.91 (95% CI, 0.86-0.96)
QTc0.22 (95% CI, 0.13-0.31)0.36 (95% CI, 0.23-0.47)

Further findings

OutcomeCNNQTc
LQTS detection with normal or borderline QTc (subgroup)
F1 score0.70 (95% CI, 0.40-1.00)Not reported in the abstract
Sensitivity0.78 (95% CI, 0.53-0.95)Not reported in the abstract
LQTS detection, cross-sectional validation cohort (406 patients)
AUC0.81 (95% CI, 0.80-0.85)0.74 (95% CI, 0.69-0.78)

Original publication

Deep Learning–Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome. JAMA Cardiol. Published 1 April 2024. doi:10.1001/jamacardio.2024.0039

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