Cited by 116ECG Monitoring and AnalysisArtificial Intelligence in Healthcare and EducationMachine Learning in Healthcare

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Detecting structural heart disease from electrocardiograms using AI

Open access

Abstract

Early detection of structural heart disease is critical to improving outcomes, but widespread screening remains limited by the cost and accessibility of imaging tools such as echocardiography1,2. Recent advances in machine learning applied to heart rhythm recordings have shown promise in identifying disease3,4, although previous work has been limited by development in narrow populations or targeting only select heart conditions5. Here we introduce a deep learning model, EchoNext, trained on more than 1 million heart rhythm and imaging records across a large and diverse health system to detect many forms of structural heart disease. The model demonstrated high diagnostic accuracy in internal and external validation, outperforming cardiologists in a controlled evaluation and showing consistent performance across different care settings and racial and/or ethnic groups. The models were prospectively evaluated in a clinical trial of patients without previous cardiac imaging, successfully identifying previously undiagnosed heart disease. These findings support the potential of artificial intelligence to expand access to heart disease screening at scale. To enable further development and transparency, we have publicly released model weights and a large, annotated dataset linking heart rhythm data to imaging-based diagnoses. EchoNext, a deep learning model for electrocardiograms trained and validated in diverse health systems, successfully detects many forms of structural heart disease, supporting the potential of artificial intelligence to expand access to heart disease screening at scale.

Overview

AI snapshot

Written from the paper’s full text.

TL;DR

EchoNext, a deep learning model trained on more than 1 million ECG–echocardiogram pairs, detects a broad composite of structural heart disease (SHD) from 12-lead ECGs with high internal accuracy and moderate external generalization. It outperformed cardiologists in a controlled ECG review and identified previously undiagnosed SHD in a 100-patient pilot trial, with model weights and an annotated ECG dataset publicly released.

Key findings

  • In the NYP multicentre test set, EchoNext achieved an AUROC of 85.2% (95% CI 84.5–85.9%), AUPRC of 78.5% (95% CI 77.2–79.6%) and diagnostic odds ratio of 12.8 (95% CI 11.6–14.1) for the SHD composite, where test-set SHD prevalence was 36%.
  • External validation at Cedars-Sinai (n = 10,177), Montreal Heart Institute (n = 10,862) and UCSF (n = 6,106) showed AUROC 78–80%, a 5–7% drop versus internal NYP hospitals; at 70% sensitivity, external cohorts had comparable positive predictive value but a 10% drop in specificity.
  • In a cardiologist survey using 150 ECGs and 3,200 reviews from 13 cardiologists, EchoNext alone had accuracy 77.3%, sensitivity 72.6% and specificity 80.7%; cardiologists without AI had accuracy 64.0% (95% CI 61.6–66.4%), improving to 69.2% (95% CI 66.9–71.4%) with AI assistance, still below AI alone.
  • In the 100-patient DISCOVERY pilot trial, post hoc EchoNext risk groups showed SHD in 73% of high-risk, 28% of moderate-risk and 6% of low-risk patients (P < 0.001); silent deployment on 124,027 ECGs found AUROC 83% and AUPRC 81%, with 38% of patients who underwent first echocardiography newly diagnosed with SHD.

Methods

  • Retrospective NYP multicentre cohort of 1,245,273 ECG–echocardiogram pairs from 230,318 unique patients aged 18 years or older across eight NYP-affiliated hospitals (December 2008–2022), split at patient level into train (149,819 patients), validation (35,780) and test (44,719) sets.
  • EchoNext is a convolutional neural network using the 12-lead ECG waveform plus demographics and seven standard ECG values; it was trained as a multitask classifier for the SHD composite and individual component labels, with SHD defined by echocardiographic cutoffs including LVEF ≤45%, LV wall thickness ≥1.3 cm, moderate/severe right ventricular dysfunction, pulmonary hypertension, moderate/severe valvular disease and moderate/large pericardial effusion.
  • Validation included three external cohorts, a temporally distinct silent deployment (January–September 2023), a cardiologist comparison survey, and the single-arm DISCOVERY pilot trial; performance was assessed mainly by AUROC, AUPRC, sensitivity, specificity and positive predictive value, with 95% CIs from 1,000 bootstrapped estimates.

Limitations

  • Stated by the paper: binary cutoffs were arbitrarily chosen for continuous measures such as LVEF and LV wall thickness; AUPRCs come from retrospective ECG-plus-echocardiogram populations with higher SHD prevalence than a screening population; some component labels performed suboptimally, including LV wall thickness (label noise) and pulmonary regurgitation (rare and correlated with other conditions); multilabel optimization may compromise certain labels; and DISCOVERY was small and recruited using the earlier ValveNet model, so larger pragmatic trials are needed.
  • Evident in the text: external AUROC dropped to 78–80% and external SHD prevalence was higher (54%, 52%, 46%) than in the NYP cohort (36%), indicating performance variation across settings and case mix.
  • Evident in the text: for patients with ECGs but no follow-up echocardiograms, true SHD prevalence is unknown, so positive predictive value was modeled across assumed prevalences; the cardiologist comparison also excluded clinical history, physical exam and other testing data typically available in practice.

Model-written summary. Check it against the paper before relying on it.

Integrity signals

Registry

Crossref · 10.1038/s41586-025-09227-0

Cites

35 of 35 references verified0 citation errors · 0 not checkable

Statistics

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Figures

Fig. 1 Model development: NYP multicentre cohort derivation. The deep learning model was trained and tested using data from an eight-hospital system (NYP Hospital). ECG data were accessed using the MUSE system with removal of ECGs with missing age, sex and patient identifier, poor study quality designation by machine recommending repeating of ECG or presence of ventricular pacing. Echocardiogram data were accessed using hospital systems with removal of patients with repaired or replaced heart failures. This yielded 1.2 million ECG–echocardiogram pairs in 230,018 unique patients with data split into train, validation and test sets.
Fig. 1 Model development: NYP multicentre cohort derivation. The deep learning model was trained and tested using data from an eight-hospital system (NYP Hospital). ECG data were accessed using the MUSE system with removal of ECGs with missing age, sex and patient identifier, poor study quality designation by machine recommending repeating of ECG or presence of ventricular pacing. Echocardiogram data were accessed using hospital systems with removal of patients with repaired or replaced heart failures. This yielded 1.2 million ECG–echocardiogram pairs in 230,018 unique patients with data split into train, validation and test sets.CC BY-NC-ND · PubMed Central
Fig. 2 Multicentre EchoNext performance. Performance of the model in detection of individual and compositive SHDs. a,b, By AUROC (a) and AUPRC (b), the model had high performance in detection of SHD in the internal eight-hospital NYP system test set and three geographically distinct external test sets (Montreal Heart, Cedars-Sinai and University of California San Francisco (UCSF)). c, Individual disease models had the highest performance in the detection of reduced low left ventricular (LV) and right ventricular (RV) systolic function by AUROC with favourable performance for other disease states. d, Assessment of the AUPRC for the individual disease states is highly dependent on the underlying prevalence of the individual disease states. TR, tricuspid regurgitation. Dashed lines (a,c) indicate random classifier.
Fig. 2 Multicentre EchoNext performance. Performance of the model in detection of individual and compositive SHDs. a,b, By AUROC (a) and AUPRC (b), the model had high performance in detection of SHD in the internal eight-hospital NYP system test set and three geographically distinct external test sets (Montreal Heart, Cedars-Sinai and University of California San Francisco (UCSF)). c, Individual disease models had the highest performance in the detection of reduced low left ventricular (LV) and right ventricular (RV) systolic function by AUROC with favourable performance for other disease states. d, Assessment of the AUPRC for the individual disease states is highly dependent on the underlying prevalence of the individual disease states. TR, tricuspid regurgitation. Dashed lines (a,c) indicate random classifier.CC BY-NC-ND · PubMed Central
Fig. 3 Performance characteristics of EchoNext in retrospective validation, comparison to cardiologists, silent deployment, and clinical trial. a, In test sets of held-out patients at these sites, as well as in three geographically distinct external test sets, the model demonstrated high accuracy, as demonstrated by AUROC. Dashed line indicates random classifier. b, In a survey of ECGs shown to cardiologists to assess for the presence of SHD, the AI model demonstrated superior performance in SHD detection compared with cardiologists alone or cardiologists given the EchoNext risk score (n = 3,200 cardiologist interpretations). Error bars show the CIs derived from results across 13 cardiologists; because the AI model was run once on the entire set of 150 ECGs, there are no error bars for the ‘AI alone’ results. c, This model was evaluated in a temporally distinct held-out set with similar accuracy, with 45% (n = 3,444) of patients labelled as high risk by the model failing to undergo echocardiography as part of routine clinical care. d, The clinical use of AI-ECG to detect SHD was evaluated in a single-arm, single-site, open-label pilot clinical trial, DISCOVERY, with stratified recruitment of patients (N = 100) with an ECG but no previous echocardiogram. This trial used a related ECG model, ValveNet, which was trained to detect left-sided VHD (Left-VHD) with patients selected stratified sampling by their AI-ECG scores. This trial showed a high-level of discrimination in the detection of Left-VHD (primary endpoint) and SHD (secondary endpoint), and post hoc assessment using the second-generation EchoNext model demonstrated an even greater degree of risk stratification with 73% of patients in the highest risk and 6% of patients in the lowest-risk groups being found to have SHD. Left-VHD, moderate or severe aortic stenosis, aortic regurgitation or mitral regurgitation; SHD, LVEF less than or equal to 45%, low left ventricular wall thickness greater than or equal to 1.3 cm, moderate or severe right ventricular dysfunction, any moderate or severe VHD, PASP greater than or equal to 45 mm Hg or a moderate or large pericardial effusion.
Fig. 3 Performance characteristics of EchoNext in retrospective validation, comparison to cardiologists, silent deployment, and clinical trial. a, In test sets of held-out patients at these sites, as well as in three geographically distinct external test sets, the model demonstrated high accuracy, as demonstrated by AUROC. Dashed line indicates random classifier. b, In a survey of ECGs shown to cardiologists to assess for the presence of SHD, the AI model demonstrated superior performance in SHD detection compared with cardiologists alone or cardiologists given the EchoNext risk score (n = 3,200 cardiologist interpretations). Error bars show the CIs derived from results across 13 cardiologists; because the AI model was run once on the entire set of 150 ECGs, there are no error bars for the ‘AI alone’ results. c, This model was evaluated in a temporally distinct held-out set with similar accuracy, with 45% (n = 3,444) of patients labelled as high risk by the model failing to undergo echocardiography as part of routine clinical care. d, The clinical use of AI-ECG to detect SHD was evaluated in a single-arm, single-site, open-label pilot clinical trial, DISCOVERY, with stratified recruitment of patients (N = 100) with an ECG but no previous echocardiogram. This trial used a related ECG model, ValveNet, which was trained to detect left-sided VHD (Left-VHD) with patients selected stratified sampling by their AI-ECG scores. This trial showed a high-level of discrimination in the detection of Left-VHD (primary endpoint) and SHD (secondary endpoint), and post hoc assessment using the second-generation EchoNext model demonstrated an even greater degree of risk stratification with 73% of patients in the highest risk and 6% of patients in the lowest-risk groups being found to have SHD. Left-VHD, moderate or severe aortic stenosis, aortic regurgitation or mitral regurgitation; SHD, LVEF less than or equal to 45%, low left ventricular wall thickness greater than or equal to 1.3 cm, moderate or severe right ventricular dysfunction, any moderate or severe VHD, PASP greater than or equal to 45 mm Hg or a moderate or large pericardial effusion.CC BY-NC-ND · PubMed Central
Fig. 4 Characteristics of the released Columbia ECG dataset and performance of the Columbia mini-model trained on these data for SHD prediction. A 100,000 ECG dataset is being released from data from Columbia University Irving Medical Center as part of this paper. These data consist of the ECG waveform, ECG tabular features and paired echocardiographic data. A model trained and tested on this dataset demonstrated similar performance in SHD detection as the multisite model that served as the primary analysis in this study when assessed by AUROC and AUPRC. Dashed line indicates random classifier.
Fig. 4 Characteristics of the released Columbia ECG dataset and performance of the Columbia mini-model trained on these data for SHD prediction. A 100,000 ECG dataset is being released from data from Columbia University Irving Medical Center as part of this paper. These data consist of the ECG waveform, ECG tabular features and paired echocardiographic data. A model trained and tested on this dataset demonstrated similar performance in SHD detection as the multisite model that served as the primary analysis in this study when assessed by AUROC and AUPRC. Dashed line indicates random classifier.CC BY-NC-ND · PubMed Central

Verification

Claims the paper makes

42 Own result · 14 Own method · 13 Own interpretation · 12 No basis given · 6 Partly supported · 3 Supported · 1 Supported so far · accuracy not yet measured

Show all 40 claims

  • It may state two separate claims as one. 39
  • Probably not a substantial claim. 19
51 of 51
  • The authors state this as an assumption.

    The prevalence of SHD among the 69,781 patients with an ECG but no follow-up echocardiogram is 10% (or can be represented by the scenarios in Table 3) for the estimate of 1,998 newly diagnosed cases.

    “Given that the actual prevalence of disease in this population is unknown, Table 3 provides estimates of model precision as a function of varying prevalence and chosen sensitivity. For example, if SHD prevalence is 10% in this population, the projected positive predictive value would be 46.5% at 50% sensitivity.”
  • The paper relies on this without support.

    For heart failure and VHD, symptoms can be attributed to many potential diagnoses and are often only present late in the disease course.

    “For at least two forms of SHD, heart failure and VHD, symptoms can be attributed to many potential diagnoses and are often only present late in the disease course.”
  • The paper relies on this without support.

    All forms of SHD can be definitively diagnosed with echocardiography, but cost, required expertise and appropriate patient selection limit its total use.

    “All forms of SHD can be definitively diagnosed with echocardiography, but cost, required expertise and appropriate patient selection limit its total use.”
  • The paper relies on this without support.

    SHD is a growing epidemic that remains substantially underdiagnosed.

    “Structural heart disease (SHD) is a growing epidemic that remains substantially underdiagnosed.”
  • The paper relies on this without support.

    Explicit detection of most SHD from ECG, particularly without other aspects of clinical history and physical exam, is not standard clinical practice.

    “explicit detection of most SHD from ECG—particularly without other aspects of clinical history and physical exam—is not a standard clinical practice”
  • The paper relies on this without support.

    There have been few prospective studies of AI-ECG models thus far.

    “There have been few prospective studies of AI-ECG models thus far.”
  • The paper relies on this without support.

    The DISCOVERY trial is the first focused specifically on the detection of VHD and the broader composite of all SHD.

    “The DISCOVERY trial is the first focused specifically on the detection of VHD and the broader composite of all SHD.”
  • The paper relies on this without support.

    The underlying prevalence of undiagnosed SHD among patients with ECGs and no echocardiograms is not well known.

    “Because it is not well known what the underlying prevalence of undiagnosed SHD among patients with ECGs and no echocardiograms, we modelled a range of potential prevalences”
8 of 8

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Metadata

Authors
Poterucha, T. J., Jing, L., Ricart, R. P., Adjei-Mosi, M., Finer, J., Hartzel, D., Kelsey, C., Long, A., Rocha, D., Ruhl, J. A., vanMaanen, D., Probst, M. A., Daniels, B., Joshi, S. D., Tastet, O., Corbin, D., Avram, R., Barrios, J. P., Tison, G. H., Chiu, I.-M., Ouyang, D., Volodarskiy, A., Castillo, M., Roedan Oliver, F. A., Malta, P. P., Ye, S., Rosner, G. F., Dizon, J. M., Ali, S. R., Liu, Q., Bradley, C. K., Vaishnava, P., Waksmonski, C. A., DeFilippis, E. M., Agarwal, V., Lebehn, M., Kampaktsis, P. N., Shames, S., Beecy, A. N., Kumaraiah, D., Homma, S., Schwartz, A., Hahn, R. T., Leon, M., Einstein, A. J., Maurer, M. S., Hartman, H. S., Hughes, J. W., Haggerty, C. M., & Elias, P.
Affiliations
  • Columbia University Irving Medical Center (US)
  • NewYork–Presbyterian Hospital (US)
  • Columbia University (US)
  • Weill Cornell Medicine (US)
  • Montreal Heart Institute (CA)
  • University of California, San Francisco (US)
  • Cedars-Sinai Medical Center (US)
Corresponding author
Elias, Pierre
Venue
Nature
Published
2025-07-16
Volume
644
Issue
8075
Pages
221-230
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
OpenAlex
W4412479499
Cited by
116
References
35
Citations by year
2026: 89 · 2025: 27
FWCI
71.13
Type
journal article
Language
en
Open access
Locations
  • Nature (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • PubMed Central (submittedVersion, cc-by-nc-nd)
Funders
  • American Heart Association (58275/AHA, 23SCISA1077494, 933452)
  • Patient-Centered Outcomes Research Institute
  • Amyloidosis Foundation
  • Fondation Institut de Cardiologie de Montréal
  • Institut de Cardiologie de Montréal
  • National Institutes of Health (R01‐grant)
  • National Heart, Lung, and Blood Institute (R01HL149680, R01HL177055)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › ECG Monitoring and Analysis
  • Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
  • Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
Keywords
structural heart disease, electrocardiogram, deep learning, cardiac screening, cardiac imaging, cardiac rhythm, racial and ethnic diversity, model validation
MeSH terms
Deep Learning, Adult, Aged, Artificial Intelligence, Electrocardiography, Female, Heart Diseases, Heart Rate, Humans, Male, Middle Aged, Prospective Studies, Reproducibility of Results, Early Diagnosis

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