Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis

• Published in: Medicina clinica Vol. 161; no. 9; p. 382
• Main Authors: Gallego Delgado, María, Gayán Ordás, Jara, Eiros, Rocío, García Berrocal, Belén, Sánchez, Pedro Luis, Villacorta, Eduardo
• Format: Journal Article
• Language: English
• Published: Spain 10.11.2023
• Subjects: Aged; Aged, 80 and over; Amyloid Neuropathies, Familial - diagnosis; Amyloid Neuropathies, Familial - genetics; Cardiomyopathies - epidemiology; Cardiomyopathies - genetics; Female; Genetic Testing; Humans; Male; Mutation; Prealbumin - genetics; Prevalence; Retrospective Studies; Spain - epidemiology; Spain; Cardiac amyloidosis; Consejo genético; Transthyretin; Amiloidosis cardíaca; Transtiretina; Edad avanzada; Elderly; Genetic counselling
• ISSN: 1578-8989
• DOI: 10.1016/j.medcli.2023.06.023

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. 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. 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. 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.