JACC Case Rep. 2026 Sep 16;31(37):110259. doi: 10.1016/j.jaccas.2026.110259. Epub 2026 Sep 16.
ABSTRACT
BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is an underdiagnosed cause of heart failure (HF), typically identified at later disease stages. The TTR p.Val142Ile (V142I) variant, found in ∼4% of African American (AA) individuals, is the most common cause of ATTRv in the United States and delayed diagnoses contribute to health disparities.
PROJECT RATIONALE: Genetic testing is a guideline-directed step in diagnosing ATTRv but is performed in only ∼6% of patients. Improving identification of at-risk patients through genetic testing should accelerate diagnosis.
PROJECT SUMMARY: A novel phenotype risk score (PheRS) that identifies patients at increased likelihood of harboring V142I is implemented in a health system. Using data from the electronic health records of AA patients ≥60 years old with HF, high-risk PheRS scores trigger clinician alerts recommending genetic testing through a new asynchronous, message-only (E-visit) pathway.
TAKE-HOME MESSAGE: A disease-specific PheRS paired with clinician prompts and a digital genetics care pathway can expedite genetic diagnoses in patients with HF at risk for ATTRv.
PMID:42752044 | DOI:10.1016/j.jaccas.2026.110259