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Machine Learning to Automatically Differentiate Hypertrophic Cardiomyopathy, Cardiac Light Chain, and Cardiac Transthyretin Amyloidosis: A Multicenter CMR Study

2025· article· en· W4411037342 on OpenAlexaff
Lukas D. Weberling, Andreas Ochs, Mitchel Benovoy, Fabian aus dem Siepen, Janek Salatzki, Evangelos Giannitsis, Chong Duan, Kevin Maresca, Yao Zhang, Jan Möller, Silke Friedrich, Stefan Schönland, Benjamin Meder, Matthias G. Friedrich, Norbert Frey, Florian André

Bibliographic record

VenueCirculation Cardiovascular Imaging · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicAmyloidosis: Diagnosis, Treatment, Outcomes
Canadian institutionsMcGill University Health CentreGDI Integrated Facility Services (Canada)
Fundersnot available
KeywordsMedicineCardiac amyloidosisHypertrophic cardiomyopathyTransthyretinRestrictive cardiomyopathyCardiomyopathyAmyloidosisInternal medicineCardiologyAL amyloidosisStage (stratigraphy)Cardiac magnetic resonance imagingHeart failureRadiologyMagnetic resonance imagingImmunoglobulin light chain

Abstract

fetched live from OpenAlex

BACKGROUND: Cardiac amyloidosis is associated with poor outcomes and is caused by the interstitial deposition of misfolded proteins, typically ATTR (transthyretin) or AL (light chains). Although specific therapies during early disease stages exist, the diagnosis is often only established at an advanced stage. Cardiovascular magnetic resonance (CMR) is the gold standard for imaging suspected myocardial disease. However, differentiating cardiac amyloidosis from hypertrophic cardiomyopathy may be challenging, and a reliable method for an image-based classification of amyloidosis subtypes is lacking. This study sought to investigate a CMR machine learning (ML) algorithm to identify and distinguish cardiac amyloidosis. METHODS: This retrospective, multicenter, multivendor feasibility study included consecutive patients diagnosed with hypertrophic cardiomyopathy or AL/ATTR amyloidosis and healthy volunteers. Standard clinical information, semiautomated CMR imaging data, and qualitative CMR features were integrated into a trained ML algorithm. RESULTS: Four hundred participants (95 healthy, 94 hypertrophic cardiomyopathy, 95 AL, and 116 ATTR) from 56 institutions were included (269 men aged 58.5 [48.4-69.4] years). A 3-stage ML screening cascade sequentially differentiated healthy volunteers from patients, then hypertrophic cardiomyopathy from amyloidosis, and then AL from ATTR. The ML algorithm resulted in an accurate differentiation at each step (area under the curve, 1.0, 0.99, and 0.92, respectively). After reducing included data to demographics and imaging data alone, the performance remained excellent (area under the curve, 0.99, 0.98, and 0.88, respectively), even after removing late gadolinium enhancement imaging data from the model (area under the curve, 1.0, 0.95, 0.86, respectively). CONCLUSIONS: A trained ML model using semiautomated CMR imaging data and patient demographics can accurately identify cardiac amyloidosis and differentiate subtypes.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.045
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.005
GPT teacher head0.230
Teacher spread0.224 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations9
Published2025
Admission routes1
Has abstractyes

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