Popis: |
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a morbid condition. Patients’ TTR genotype may guide family screening and therapeutic decisions. Patients diagnosed with ATTR-CM who underwent genetic testing at our institution were included. Classification and regression trees (CART) and logistic regression were used to predict risk of pathologic TTR gene variants. Age, sex, and race served as independent variables. The primary outcome was accuracy in a separate institution’s ATTR-CM registry. Differences in risk were greatest across race, followed by age and sex. The CART algorithm showed 79.6% accuracy (60.9% sensitivity, 93.5% specificity) in the validation cohort. Non-African American (AA) patients with ATTR-CM over age 68 had < 4% risk of having a predisposing mutation. Age, sex, and race are efficient predictors of ATTR-CM patients’ risk of having pathogenic TTR mutations with high specificity. |