Heart failure & cardiomyopathiesCohort study
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre
- Retrospective cohort study
- observational
- single-centre
- consecutive patients
Authors' conclusion
Three main phenotypes can be identified (cardiac, neurological, and mixed) with specific clinical and instrumental features.
Study context
- Population
- Consecutive patients with TTR gene mutations (ATTRv) at a tertiary referral centre in Bologna, Italy, 1984–2022
- Participants
- 325 patients
- Exposure
- Asymptomatic carriers vs cardiac, neurological and mixed phenotypes
- Asymptomatic carriersn = 106
- Cardiac phenotypen = 49
- Neurological phenotypen = 49
- Mixed phenotypen = 121
Main finding
As reported in the abstract
Mortality and progression to ATTRv · median follow-up 51 months
Deaths
111 (38.3%)
Asymptomatic carriers developing ATTRv
9 (11.5%) of 78
Observational data: associations, not effects.
Further findings
Most common mutations (22 different found)
- Ile68Leu
- 41.8%
- Val30Met
- 19%
- Glu89Gln
- 10%
Independent associations with survival
- Age at diagnosis, NYHA class III, LVEF, modified polyneuropathy disability score IV and disease-modifying therapy independently associated with survival
Original publication
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre. Eur J Prev Cardiol. Published 10 January 2024. doi:10.1093/eurjpc/zwae011
Summarised from the published abstract; every number is checked against it