TTR Variant p.Ala65Val Causing Early-Onset Hereditary Transthyretin Amyloidosis With Mixed Cardiac and Neuropathic Phenotype
Authors:
- Javier Torres-ValenciaJTJavier Torres-Valencia
- Sebastian Reyes-VillanesSRSebastian Reyes-Villanes
- Elder QuispeEQElder Quispe
- Nelson Purizaca-RosilloNPNelson Purizaca-Rosillo
- Luisser Saavedra-CordovaLSLuisser Saavedra-Cordova
- Mary M. Araujo-ChumaceroMAMary M. Araujo-Chumacero
- Ricardo RománRRRicardo Román
- Franklin EspinozaFEFranklin Espinoza
- Julio F. MamaniJMJulio F. Mamani
- Miguel Reyes-RochaMRMiguel Reyes-Rocha
Open Access
- 23 September 2026
- journal article
- Published by Elsevier in JACC: Case Reports
- Vol. 31 (38)
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Transthyretin Cardiac Amyloidosis Evaluation and Management: 2025 ACC Concise Clinical GuidanceJACC, 2025
- Current Landscape of Therapies for Transthyretin Amyloid CardiomyopathyJACC: Heart Failure, 2025
- Vutrisiran in Patients with Transthyretin Amyloidosis with CardiomyopathyNew England Journal of Medicine, 2025
- A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case reportBMC Neurology, 2022
- Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trialAmyloid, 2022