• Medicina clinica · Nov 2023

    Observational Study

    Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis.

    • María Gallego Delgado, Jara Gayán Ordás, Rocío Eiros, Belén García Berrocal, Pedro Luis Sánchez, and Eduardo Villacorta.
    • Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complejo Asistencial Universitario de Salamanca, Gerencia Regional de Salud de Castilla y León (SACYL). Instituto de Investigación Biomédica de Salamanca (IBSAL), Salamanca, España; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, España. Electronic address: mgallegod@saludcastillayleon.es.
    • Med Clin (Barc). 2023 Nov 10; 161 (9): 382385382-385.

    Background And ObjectiveCardiac transthyretin amyloidosis (CA-ATTR) is a prevalent disease with age. Genetic study is recommended, even in eldest patients. We aim to analyze the prevalence of hereditary transthyretin amyloidosis (ATTRv) in elderly patients (≥75years) with CA-ATTR and its implications.Patients And MethodologyRetrospective observational study of the cohort of elderly patients with CA-ATTR diagnosed according to the international recommended protocol. We analyze the results of sequencing TTR gene, the differential characteristics and their clinical implications.ResultsBetween 2016 and 2022, 130 elderly patients (89% cohort) were diagnosed with CA-ATTR (85% male). In 8 of the 123 patients with a genetic study, a pathogenic variant in TTR was identified (6.5%), initiating specific treatment in 4 subjects (50%). The family study identified another case and 6 asymptomatic carriers. There were no significant differences between baseline characteristics or in clinical events.ConclusionsThe prevalence of ATTRv in elderly patients with CA-ATTR was 6.5% without observing differential characteristics that allow guiding a selective indication of genetic analysis.Copyright © 2023 Elsevier España, S.L.U. All rights reserved.

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