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February 14, 2026Circulation Cardiovascular Imaging5 citationsOpen Access

Diagnosis of Cardiac Amyloidosis on Echocardiography Using Artificial Intelligence

AIAdam IoannouMKMichel G. KhouriTKT Kitai

Key Result

The deep-learning AI model Us2.ca detected cardiac amyloidosis with 87.5% accuracy and AUC 0.92, outperforming the AI-derived multiparametric echocardiographic score accuracy of 79.5% and AUC 0.87 in external US validation.

Key Points

  • To evaluate AI-derived echocardiographic measurements and develop a deep-learning model for detecting cardiac amyloidosis.
  • Analyzed echocardiographic data from 5776 patients, including 2756 with cardiac amyloidosis.
  • Developed and validated a deep-learning model for video-based detection.
  • Computed multiparametric echocardiographic scores using AI measurements.
  • Achieved 79.5% accuracy in the U.S. cohort with sensitivity of 75.4% and specificity of 81.5%.
  • Deep-learning model demonstrated 96.2% accuracy in internal validation and 87.5% in external validation in the U.S. cohort.
  • Subgroup analysis showed AUC values ≥ 0.91 distinguishing cardiac amyloidosis from hypertrophic phenotypes.

Study Design

Type

Observational (n=5,776)

Multicenter

Yes

Structured PICO

Does an AI-based deep-learning model accurately diagnose cardiac amyloidosis on echocardiography compared to an AI-derived multiparametric score in patients with suspected hypertrophy?

P
Population
5,776 patients (2,756 with cardiac amyloidosis [CA], 3,020 controls). Multinational (United Kingdom, Taiwan, United States, Japan). Training cohort included 2,241 CA patients and 2,130 controls. External test cohorts included 515 CA patients and 890 left ventricular hypertrophy (LVH) controls.
I
Intervention
Fully automated deep-learning model (Us2.ca) analyzing apical 4-chamber echocardiography video clips, and a multiparametric echocardiographic score computed from AI-derived measurements (Us2.ai).
C
Comparator
Ground-truth clinical diagnosis (reference standard) and direct comparison between the deep-learning model and the AI-derived multiparametric echocardiographic score.
O
Outcome
Diagnostic accuracy, sensitivity, specificity, and area under the curve (AUC) for the detection of cardiac amyloidosis.

A fully automated deep-learning model applied to echocardiography videos can accurately identify cardiac amyloidosis across diverse global cohorts, outperforming AI-derived multiparametric scores.

Main Result

Effect estimate: AUC 0.92 for Us2.ca model vs AUC 0.87 for multiparametric score in US cohort and AUC 0.93 vs 0.85 in Japan cohort (95% CI 95% CI 0.90–0.94 for Us2.ca (US), 0.84–0.90 for score (US), 0.91–0.96 for Us2.ca (Japan), 0.81–0.90 for score (Japan))

Absolute Event Rate: 87.5% vs 79.5%

p-value: p=<0.001

Limitations

  • Retrospective study design requires prospective validation.
  • Training controls from Taiwan cohort labeled solely by imaging criteria without explicit CA screening, potential bias mitigated by consistent external validation.
  • High prevalence study populations; need validation in low-prevalence populations.
  • Multiparametric echocardiographic score could not classify a subset of patients due to unavailable measurements, possibly introducing selection bias.
  • Exclusion of patients with missing images, software measurement failures, or low-confidence measurements resulting from suboptimal image quality

Abstract

BACKGROUND: Diagnosing cardiac amyloidosis (CA) on echocardiography can be challenging due to the imaging overlap between CA and more prevalent causes of a hypertrophic phenotype. This study sought to (1) evaluate the performance of artificial-intelligence (AI) derived measurements incorporated into the established multiparametric echocardiographic scoring system to detect CA; (2) develop and validate an AI-based deep-learning model for video-based detection of CA on echocardiography. METHODS: The study population comprised 5776 patients (CA, 2756; controls, 3020). The training data set included patients from the UK National Amyloidosis Center and Taiwan MacKay Memorial Hospital (CA, 2241; controls, 2130). External test data sets were obtained from the US Duke University Health System (CA, 334; LVH controls, 668) and Japan National Cerebral and Cardiovascular Center (CA, 181; LVH controls, 222). RESULTS: The multiparametric echocardiographic score computed using AI-derived measurements achieved an accuracy of 79.5% (sensitivity, 75.4%; specificity, 81.5%) in the United States cohort and 79.7% (sensitivity, 81.6%; specificity, 78.1%) in the Japan cohort. The deep-learning model demonstrated accuracies of 96.2% (sensitivity, 96.8%; specificity, 95.7%) and 95.8% (sensitivity, 97.3%; specificity, 94.3%) in the internal validation and internal test sets, respectively. External validation of the deep-learning model showed accuracies of 87.5% (sensitivity, 86.6%; specificity, 87.9%) in the United States and 88.4% (sensitivity, 92.3%; specificity, 85.3%) in the Japanese cohort. Subgroup analysis demonstrated that the deep-learning model showed robust discrimination of CA from other hypertrophic phenocopies: CA versus hypertension (area under the curve AUC, 0.92 95% CI, 0.91–0.94), CA versus hypertrophic cardiomyopathy (AUC, 0.91 95% CI, 0.87–0.94), CA versus aortic stenosis (AUC, 0.93 95% CI, 0.90–0.95), CA versus chronic kidney disease (AUC, 0.93 95% CI, 0.91–0.95). The deep-learning model was able to classify a greater proportion of patients compared with the AI-derived multiparametric echocardiographic score and achieved superior diagnostic accuracy (AUC, 0.93 95% CI, 0.91–0.95 versus AUC, 0.88 95% CI, 0.85–0.90; P <0.001). CONCLUSIONS: Both the multiparametric echocardiographic score computed from AI-derived measurements and the fully automated deep-learning model can accurately identify patients with CA in globally diverse cohorts, with the deep-learning model providing superior performance.

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Cite This Study

Ioannou et al. (2026) conducted an observational in Patients with suspected cardiac amyloidosis and controls with left ventricular hypertrophy across multiple international centers (n=5,776). Deep-learning AI-based video model (Us2.ca) for detection of cardiac amyloidosis on echocardiography vs. AI-derived multiparametric echocardiographic score; standard clinical assessment was evaluated on Diagnostic accuracy of cardiac amyloidosis detection on echocardiography (AUC 0.92 for Us2.ca model vs AUC 0.87 for multiparametric score in US cohort and AUC 0.93 vs 0.85 in Japan cohort, 95% CI 95% CI 0.90–0.94 for Us2.ca (US), 0.84–0.90 for score (US), 0.91–0.96 for Us2.ca (Japan), 0.81–0.90 for score (Japan), p=<0.001). The deep-learning AI model Us2.ca detected cardiac amyloidosis with 87.5% accuracy and AUC 0.92, outperforming the AI-derived multiparametric echocardiographic score accuracy of 79.5% and AUC 0.87 in external US validation.

synapsesocial.com/papers/6990113f2ccff479cfe57ba9https://doi.org/10.1161/circimaging.125.018991
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