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Updated: Jan 22, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Machine learning detection of obstructive hypertrophic cardiomyopathy using a wearable biosensor
Eric M Green1, Reinier van Mourik2, Charles Wolfus1
1MyoKardia, Inc., South San Francisco, CA USA.
Insights
Smartwatches may soon screen for hypertrophic cardiomyopathy (HCM), a serious heart condition. Photoplethysmography analysis from watches identified obstructive HCM with high accuracy, aiding early diagnosis.
Area of Science:
- Cardiology
- Biomedical Engineering
- Medical Diagnostics
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with significant risks, including heart failure and sudden death.
- Current diagnosis rates are low (10-20%), highlighting the need for accessible, non-clinical screening methods.
- Photoplethysmography (PPG) is a noninvasive optical technique measuring blood volume changes, commonly available in smartwatches.
Purpose of the Study:
- To evaluate the efficacy of PPG-based analysis for detecting obstructive HCM (oHCM).
- To develop and validate a machine learning classifier for oHCM screening using PPG data.
Main Methods:
- Collected PPG recordings and echocardiograms from 19 oHCM patients and 64 healthy controls.
- Utilized automated analysis to compare 42 morphometric pulse wave features between groups.
- Developed a machine learning classifier to distinguish oHCM from controls.
Main Results:
- Significant differences (38/42 features) were observed in pulse wave morphology between oHCM patients and controls.
- The machine learning classifier achieved a high C-statistic of 0.99 for oHCM detection.
- Key differentiating features included systolic ejection time, rate of rise, and respiratory variation.
Conclusions:
- PPG analysis combined with machine learning shows promise as a noninvasive screening tool for oHCM.
- This technology could significantly improve early detection rates for hypertrophic cardiomyopathy.
- Further development may lead to a widely accessible screening method for obstructive HCM via smartwatches.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a heritable disease of heart muscle that increases the risk for heart failure, stroke, and sudden death, even in asymptomatic patients. With only 10-20% of affected people currently diagnosed, there is an unmet need for an effective screening tool outside of the clinical setting. Photoplethysmography uses a noninvasive optical sensor incorporated in commercial smart watches to detect blood volume changes at the skin surface. In this study, we obtained photoplethysmography recordings and echocardiograms from 19 HCM patients with left ventricular outflow tract obstruction (oHCM) and a control cohort of 64 healthy volunteers. Automated analysis showed a significant difference in oHCM patients for 38/42 morphometric pulse wave features, including measures of systolic ejection time, rate of rise during systole, and respiratory variation. We developed a machine learning classifier that achieved a C-statistic for oHCM detection of 0.99 (95% CI: 0.99-1.0). With further development, this approach could provide a noninvasive and widely available screening tool for obstructive HCM.
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