Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis

Med Clin (Barc). 2023 Nov 10;161(9):382-385. doi: 10.1016/j.medcli.2023.06.023. Epub 2023 Jul 31.
[Article in English, Spanish]

Abstract

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.

Keywords: Amiloidosis cardíaca; Cardiac amyloidosis; Consejo genético; Edad avanzada; Elderly; Genetic counselling; Transthyretin; Transtiretina.

Publication types

  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related