Heart failure & cardiomyopathiesMeta-analysis

Cardiovascular Burden of the V142I Transthyretin Variant

JAMAPublished

  • Pooled analysis of 4 observational cohort studies
  • 4 large observational studies across the US

Authors' conclusion

Among self-reported Black individuals, male and female V142I carriers faced similar and substantial risk for HF hospitalization, predominantly with reduced ejection fraction, and death, with steep age-dependent penetrance.

Study context

Population
Self-reported Black participants initially free from heart failure (HF), US; mean age 62 years, 76.7% women
Participants
23,338 participants · 4 cohorts
Comparison
V142I the transthyretin (TTR) carriers vs non-carriers
  • V142I carriersn = 754
Outcome
HF hospitalization (including HF with reduced and preserved EF) and all-cause mortality; 10-year HRs for each age 50–90 years
Follow-up
10 years

Pooled result

As reported in the abstract

HF hospitalization and all-cause mortality
  • 10-year carrier risk of HF hospitalization increased by age 63 years, predominantly driven by HF with reduced EF
  • 10-year all-cause mortality risk increased by age 72 years
  • mean (SD) follow-up 15.5 (8.2) years

Further pooled results

Estimated reduction in longevity with the variant, by age

Reduction in longevity at age 50: 1.9 years
1.9 (95% CI, 0.6-3.1)
Reduction in longevity at age 81: 2.8 years
2.8 (95% CI, 2.0-3.6)
Only age (not sex or other select variables) modified risk with the variant

Projected years of life lost, US Black carriers aged 50–95 years (2022 US population)

435 851 estimated carriers projected to cumulatively lose 957 505 years of life
957 505 (95% CI, 534 475-1 380 535)

Original publication

Cardiovascular Burden of the V142I Transthyretin Variant. JAMA. Published 4 June 2024. doi:10.1001/jama.2024.4467

Summarised from the published abstract; every number is checked against it