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

Med Clin (Barc)

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.

Published: November 2023

Background And Objective: Cardiac 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 Methodology: Retrospective 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.

Results: Between 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.

Conclusions: The 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.

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Source
http://dx.doi.org/10.1016/j.medcli.2023.06.023DOI Listing

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