Key result
Simulated AI detection of HCM reduces mortality when specificity exceeds ~90% to prevent overwhelming referrals.
Why the study?
HCM remains underdiagnosed despite effective therapies and screening, and health systems face uncertainty regarding performance thresholds and workflow integration needed to adopt and deploy AI detection models.
Does an AI-augmented program improve HCM diagnosis and reduce mortality within resource constraints in eligible patients?
Does an AI-augmented program improve HCM diagnosis and reduce mortality within resource constraints in eligible patients?
Simulations of an AI-augmented HCM screening workflow demonstrate that a specificity of ≥0.9 is required to reduce mortality without overwhelming referral capacity, highlighting the value of Target Product Profiles for AI deployment.
Hypertrophic cardiomyopathy (HCM) remains underdiagnosed despite effective therapies and accessible screening with electrocardiogram (ECG) and echocardiography. Multiple artificial intelligence (AI) tools show promise in identifying missed HCM cases; however, the path from a promising model to clinical impact remains unclear. Without clear performance thresholds and workflow integration parameters, health systems face uncertainty about which tool to adopt and how to responsibly deploy it. We propose the use of Target Product Profiles (TPPs), an extension of the Fair, Useful, Reliable (AI) Models (FURM) Assessment framework, to define the minimum and ideal requirements for AI tools while incorporating resource, financial, and ethical considerations under real-world constraints. We developed a TPP to guide evaluation of an AI-augmented program for improving HCM diagnosis. Using APLUS, a discrete-event simulation engine, we simulated an HCM screening workflow for 134,856 eligible patients within Stanford Health Care, a multi-hospital health system in California. The diagnostic workflow included primary care, echocardiography, triage, and HCM specialty clinic referral. We simulated multiple combinations of model sensitivity (0.5–0.975) and specificity (0.85–0.99), incorporating resource constraints (ex. HCM clinic capacity) and utility weights reflecting diagnostic delay, misdiagnosis, and mortality. Financial modeling included AI deployment costs and downstream care utilization. Ethical analysis was conducted through stakeholder interviews exploring issues such as perceived risks and benefits, equity, and patient consent. In our simulations, AI models with specificity ≥0.9 reduced HCM-related mortality using the proposed workflow, while lower specificity cutoffs overwhelmed referral capacity with false positive results ( Figure 1) . With a simulated 50% increase in HCM clinic capacity, a specificity of ≥0.85 was sufficient to achieve benefit. Financial models showed cost-effectiveness concentrated in true positive cases and a net positive effect for the hospital at low false-positive rates ( Figure 2) . Ethical review highlighted concerns and mitigation strategies around access disparities, patient anxiety from alerts, and subgroup representation. For HCM, a TPP integrating workflow modeling, financial constraints, and ethical insights may help clarify necessary performance metrics in context—offering a roadmap for actionable, deployment-ready AI-augmented programs.
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Parsa et al. (2025) studied Hypertrophic cardiomyopathy (HCM) (n=134,856). AI-based HCM detection model was evaluated on HCM-related mortality and referral capacity. In a simulation of 134,856 patients, AI models for HCM detection with specificity ≥0.9 reduced HCM-related mortality, while lower specificity overwhelmed referral capacity with false positives.
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