Why the study?
Cardiac transthyretin amyloidosis commonly presents as HFpEF and early identification enables disease-modifying therapy, but it remains underdiagnosed and simple, widely available screening tools are needed.
Does a visually interpretable, artificial intelligence-derived ECG algorithm accurately detect cardiac transthyretin amyloidosis in patients with heart failure with preserved ejection fraction?
Does a visually interpretable, artificial intelligence-derived ECG algorithm accurately detect cardiac transthyretin amyloidosis in patients with heart failure with preserved ejection fraction?
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“Cardiac amyloidosis can be challenging to detect early, especially when its signs overlap with more common heart conditions. A tool that helps clinicians recognize suspicion of amyloidosis from a routine ECG could support earlier diagnosis and more timely next steps in care.”
“What makes this work especially meaningful is the rigor of the validation. This ECG-AI algorithm was validated in a large multicenter study that included both ATTR and AL cardiac amyloidosis at major referral centers with deep expertise in amyloidosis diagnosis, supporting its potential to help identify patients earlier.”
A visually interpretable, AI-derived ECG algorithm provides high diagnostic accuracy for detecting cardiac transthyretin amyloidosis in patients with HFpEF, offering a simple and widely accessible screening tool.
Background Cardiac transthyretin amyloidosis (ATTR‐CA) is frequently underdiagnosed and commonly presents as heart failure with preserved ejection fraction (HFpEF). Early identification enables disease‐modifying therapy but remains challenging in routine practice, so simple, widely available screening tools are needed. Methods In this multicenter validation study, 885 patients with HF from 2 European centers were included. The internal validation cohort comprised 560 patients with preserved ejection fraction and analyzable ECGs: 149 with ATTR‐CA, 318 with HFpEF, and 93 with hypertrophic cardiomyopathy. External validation used an independent cohort of 107 patients (72 ATTR‐CA, 31 HFpEF, 4 hypertrophic cardiomyopathy). Standard 12‐lead ECGs were analyzed blindly by 3 independent observers using a previously developed, 2‐step, artificial intelligence–derived, visually interpretable ECG algorithm. Results The ECG pattern was present in 82.6% of patients with ATTR‐CA, versus 10.2% with HFpEF and 6.5% with hypertrophic cardiomyopathy ( P <0.001). Internal‐cohort accuracy was high: area under the curve 0.87 (95% CI, 0.84–0.90), sensitivity 83% (95% CI, 76%–88%), specificity 91% (95% CI, 88%–93%), and negative predictive value 93% (95% CI, 91%–96%). In the external cohort, the area under the curve was 0.84 (95% CI, 0.76–0.92), with sensitivity 89% (95% CI, 78%–94%) and specificity 79% (95% CI, 63%–90%). The pattern was strongly associated with ATTR‐CA (odds ratio, 46 [95% CI, 27–80]; P <0.001) and with reduced 3‐year survival (log‐rank P =0.007). Conclusions A visually interpretable, artificial intelligence–derived ECG algorithm enables effective screening for ATTR‐CA among patients with HFpEF. Its simplicity and compatibility with standard ECG systems support broad clinical implementation.
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Gioia et al. (2026) studied this question.
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