Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

ABSTRACT:

Background

Diagnosis of hereditary amyloid transthyretin (hATTR) amyloidosis with cardiomyopathy is frequently delayed, in large part because of symptom overlap with other cardiovascular diseases and limited provider knowledge of this disease. The sponsored and provider referred hATTR Compass Genetic Testing Program (Ionis, Carlsbad, CA; Ambry Genetics, Aliso Viejo, CA) provided no-cost genetic testing to adults with a family history or clinical suspicion of hATTR amyloidosis. This study aims to characterize patients with hATTR amyloidosis and increase awareness of genetic testing for hATTR.

Methods and results

Patients were referred to the hATTR genetic testing program, and a cross-sectional post hoc analysis was performed. A pathogenic TTR variant was identified in

SUBMITTER: Bhatt K 

PROVIDER: S-EPMC11681574 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature