Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a morbid condition, though recent advances in diagnosis and therapy stand to change its natural history. Patients’ TTR genotype may guide family screening as more treatments, and preventive strategies become available. An efficient, intuitive means of determining pretest genetic risk may better inform patients/clinicians when pursuing genetic testing. This is a cohort study of 767 consecutive patients diagnosed with ATTR-CM who underwent genetic testing. 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 69 years or older with ATTR-CM are less likely to have ATTR.