Cardiac MRI of Hereditary Cardiomyopathy
Bibliographic record
Abstract
Hereditary cardiomyopathy comprises a heterogeneous group of diseases of the cardiac muscle that are characterized by the presence of genetic mutations. Cardiac MRI is central to evaluation of patients with cardiomyopathy owing to its ability to allow evaluation of many different tissue properties in a single examination. For example, cine MRI is the standard of care for assessment of myocardial structure and function. It clearly shows regions of asymmetric wall thickening that are typical of hypertrophic cardiomyopathy and allows it to be differentiated from other hereditary disorders such as Fabry disease or transthyretin cardiac amyloidosis that produce concentric hypertrophy. Late gadolinium enhancement provides a different tissue property and allows these latter two causes of concentric hypertrophy to be distinguished on the basis of their enhancement appearances (Fabry disease shows midwall basal inferolateral enhancement, and amyloidosis shows global subendocardial enhancement). Native T1 mapping may similarly allow differentiation between Fabry disease and amyloidosis without the use of contrast material. T2*-weighted MRI is important in the detection and quantification of iron overload cardiomyopathy. Other hereditary entities for which comprehensive MRI has proven essential include Danon disease, familial dilated cardiomyopathy, hereditary muscular dystrophy, arrhythmogenic right ventricular cardiomyopathy, and ventricular noncompaction. As a result of the diagnostic power of cardiac MRI, cardiac MRI examinations are being requested with increasing frequency, not only in academic centers but also in community practices. The genetic background, pathophysiologic characteristics, and clinical presentation of patients with hereditary cardiomyopathy are described; the characteristic cardiac MRI features of hereditary cardiomyopathy are discussed; and the role of MRI in risk stratification, treatment, and prognostication in patients with cardiomyopathy is reviewed. ©RSNA, 2022 Online supplemental material is available for this article.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.006 | 0.007 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".