Cited by 404ECG Monitoring and AnalysisCardiac electrophysiology and arrhythmiasArtificial Intelligence in Healthcare

Detection of hypertrophic cardiomyopathy using a convolutional neural network-enabled electrocardiogram

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Ko, Wei-Yin, Siontis, Konstantinos C., Attia, Zachi I., Carter, Rickey E., Kapa, Suraj, Ommen, Steve R., Demuth, Steven J., Ackerman, Michael J. +8 more·2020·Journal of the American College of Cardiology

Abstract

Background Hypertrophic cardiomyopathy (HCM) is an uncommon but important cause of sudden cardiac death. Objectives This study sought to develop an artificial intelligence approach for the detection of HCM based on 12-lead electrocardiography (ECG). Methods A convolutional neural network (CNN) was trained and validated using digital 12-lead ECG from 2,448 patients with a verified HCM diagnosis and 51,153 non-HCM age- and sex-matched control subjects. The ability of the CNN to detect HCM was then tested on a different dataset of 612 HCM and 12,788 control subjects. Results In the combined datasets, mean age was 54.8 ± 15.9 years for the HCM group and 57.5 ± 15.5 years for the control group. After training and validation, the area under the curve (AUC) of the CNN in the validation dataset was 0.95 (95% confidence interval [CI]: 0.94 to 0.97) at the optimal probability threshold of 11% for having HCM. When applying this probability threshold to the testing dataset, the CNN's AUC was 0.96 (95% CI: 0.95 to 0.96) with sensitivity 87% and specificity 90%. In subgroup analyses, the AUC was 0.95 (95% CI: 0.94 to 0.97) among patients with left ventricular hypertrophy by ECG criteria and 0.95 (95% CI: 0.90 to 1.00) among patients with a normal ECG. The model performed particularly well in younger patients (sensitivity 95%, specificity 92%). In patients with HCM with and without sarcomeric mutations, the model-derived median probabilities for having HCM were 97% and 96%, respectively. Conclusions ECG-based detection of HCM by an artificial intelligence algorithm can be achieved with high diagnostic performance, particularly in younger patients. This model requires further refinement and external validation, but it may hold promise for HCM screening.

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Crossref · 10.1016/j.jacc.2019.12.030

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  • Hypertrophic cardiomyopathy, cardiac amyloidosis, and pulmonary hypertension AI-ECG applications remain earlier or pathway-incomplete.

    “hypertrophic cardiomyopathy, cardiac amyloidosis, and pulmonary hypertension remain earlier or pathway-incomplete applications.”

    From AI-ECG for Echocardiography Triage in Structural Heart Disease: Evidence, Implementation, and Future Directions (2026) · cites this paper as [26]

    The Conclusions and Study Limitations sections describe the AI-ECG model for hypertrophic cardiomyopathy as promising but still requiring refinement and external validation before broader screening use. The paper does not address AI-ECG applications for cardiac amyloidosis or pulmonary hypertension, so it supports only the hypertrophic-cardiomyopathy part of the claim. Page numbers were not supplied in our copy. (LLM, conf=0.88)

    Experimental — accuracy not yet measured
  • HCM and cardiac amyloidosis should be regarded as clinically important but pathway-incomplete domains rather than deployable screening indications comparable to low-LVEF AI-ECG.

    “Taken together, HCM and CA should therefore be regarded as clinically important but pathway-incomplete domains rather than deployable screening indications comparable to low-LVEF AI-ECG.26–30,43”

    From AI-ECG for Echocardiography Triage in Structural Heart Disease: Evidence, Implementation, and Future Directions (2026) · cites this paper as [26]

    The Discussion says the HCM model may not yet be effective for widespread screening and that external validation is critical; Study Limitations says applicability in other settings remains undetermined (page numbers unavailable). This supports treating HCM screening as not yet ready for widespread use. The paper does not address cardiac amyloidosis or establish a comparison with the deployability of low-LVEF AI-ECG. (LLM, conf=0.86)

    Experimental — accuracy not yet measured
  • HCM has shown consistently high discrimination, international external validation, and early real-world implementation, making it one of the more reproducible structural AI-ECG targets.

    “HCM has shown consistently high discrimination, international external validation, and early real-world implementation, making it one of the more reproducible structural AI-ECG targets.”

    From Deep Learning Applied to 12-Lead ECGs for Detection of Structural, Metabolic and Systemic Disease (2026) · cites this paper as [10]

    The Discussion (page not provided) reports high discrimination across the training, validation, and testing cohorts, with AUCs of 0.97, 0.95, and 0.96. But the Conclusions and Study Limitations (pages not provided) say the model still requires external validation and describe screening as a future possibility; this paper does not support international external validation or real-world implementation. (LLM, conf=0.90)

    Experimental — accuracy not yet measured
  • Deep learning has been shown to be beneficial in detecting specific heart diseases from the 12-lead ECG, including aortic stenosis, low LVEF, low left ventricular hypertrophy and composites of valvular diseases.

    “The application of deep learning, a subset of artificial intelligence (AI), has been shown to be beneficial in the detection of specific heart diseases from the 12-lead electrocardiogram (ECG). This includes conditions such as aortic stenosis, low left ventricular ejection fraction (LVEF) and low left ventricular hypertrophy, as well as composites of many valvular diseases3,17–21.”

    From Detecting structural heart disease from electrocardiograms using AI (2025) · cites this paper as [20]

    The Abstract reports that a deep-learning model detected hypertrophic cardiomyopathy from 12-lead ECGs and mentions earlier success detecting left ventricular dysfunction. The Subgroup Analyses treat left ventricular hypertrophy and aortic stenosis as patient subgroups or comparators, not conditions the model was trained to detect. The paper does not establish detection of the listed valvular diseases. Page numbers were not supplied. (LLM, conf=0.86)

    Experimental — accuracy not yet measured
  • Ko et al. developed the first AI-ECG model for HCM detection, achieving an AUC of 0.96 in an independent testing cohort, with 87% sensitivity and 90% specificity at the prespecified threshold.

    “Ko et al at the Mayo Clinic developed the first AI-ECG model for HCM detection, achieving an AUC of 0.96 in an independent testing cohort, with 87% sensitivity and 90% specificity at the prespecified threshold.”

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Authors
Ko, W.-Y., Siontis, K. C., Attia, Z. I., Carter, R. E., Kapa, S., Ommen, S. R., Demuth, S. J., Ackerman, M. J., Gersh, B. J., Arruda-Olson, A. M., Geske, J. B., Asirvatham, S. J., Lopez-Jimenez, F., Nishimura, R. A., Friedman, P. A., & Noseworthy, P. A.
Affiliations
  • Mayo Clinic (US)
  • Mayo Clinic in Florida (US)
Corresponding author
Noseworthy, Peter A.
Venue
Journal of the American College of Cardiology
Publisher
Elsevier BV
Published
2020-02
Volume
75
Issue
7
Pages
722-733
ISSN
0735-1097 (ISSN-L)
OpenAlex
W3008117014
Cited by
404
References
30
Citations by year
2026: 53 · 2025: 89 · 2024: 86 · 2023: 70 · 2022: 41 · 2021: 47 · 2020: 17
FWCI
27.07
Type
journal article
Language
en
Open access
Locations
  • Journal of the American College of Cardiology (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Heart, Lung, and Blood Institute (K01HL124045)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › ECG Monitoring and Analysis
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
  • Health Sciences › Health Professions › Health Information Management › Artificial Intelligence in Healthcare
Keywords
hypertrophic cardiomyopathy, electrocardiogram, convolutional neural networks, artificial intelligence, automated disease detection, left ventricular hypertrophy, sarcomeric mutations, sudden cardiac death, diagnostic accuracy
MeSH terms
Adult, Aged, Algorithms, Cardiomyopathy, Hypertrophic, Electrocardiography, Female, Humans, Male, Middle Aged, Models, Cardiovascular, Neural Networks, Computer

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