Heart failure & cardiomyopathies
Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information
Authors' conclusion
This CART algorithm incorporating age, sex, and race was able to determine which patients with ATTR-CM have pathogenic TTR mutations with high specificity. Non-Black patients diagnosed at age 69 years or older with ATTR-CM have a low likelihood to have ATTRv.
Study context
- Population
- Consecutive patients diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM) who underwent genetic testing
- Participants
- 767 patients
- Outcome
- Decision tree's accuracy in 2 separate institutions' ATTR-CM registry
Methodological details2 institutions' ATTR-CM registries, validation cohort
- 2 institutions' ATTR-CM registries
- Validation cohort
Main finding
As reported in the abstract
Prediction of pathologic TTR variant (validation cohort)
| Group | Accuracy | Sensitivity | Specificity |
|---|---|---|---|
| Classification and regression trees (CART) algorithm | 88.2% | 75.3% | 93.9% |
Classification and regression trees (CART) algorithm
Accuracy88.2%
Sensitivity75.3%
Specificity93.9%
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| TTR gene variant, Blackvs non-Black patients (logistic regression) | 34.6 (20.5–58.3) | P < 0.001 | |
| 0.050.21520Odds ratio (log scale) |
Prevalence of ATTRv in study cohort
- Patients with ATTRv
- 208 (27.1%)
Risk of predisposing mutation in non-Black patients aged ≥69 years
- Risk of predisposing mutation
- <4%
Original publication
Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information. Circ Heart Fail. Published 20 January 2023. doi:10.
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