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Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers.

Naman S Shetty1, Mokshad Gaonkar2, Akhil Pampana2

  • 1Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA.

JACC. Heart Failure
|November 9, 2024
PubMed
Summary
This summary is machine-generated.

A favorable cardiovascular risk factor profile lowers heart failure risk in Black individuals with the transthyretin V142I variant, but does not eliminate it. Managing risk factors is crucial for V142I carriers.

Keywords:
Black individualsV142Iamyloidosiscardiovascular risk factorsheart failuremortality

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Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • The transthyretin V142I variant is prevalent in 3-4% of Black individuals in the US, increasing heart failure risk.
  • The impact of cardiovascular risk factors on heart failure outcomes in V142I carriers remains unclear.

Purpose of the Study:

  • To investigate how cardiovascular risk factors influence heart failure risk in individuals carrying the transthyretin V142I variant.

Main Methods:

  • Utilized data from TOPMed, REGARDS, and All of Us Research Program cohorts, including self-identified Black individuals.
  • Stratified participants by V142I genotype and number of cardiovascular risk factors (hypertension, diabetes, obesity, hypercholesterolemia).
  • Employed adjusted Cox models to analyze heart failure associations with V142I genotype and risk factor profiles.

Main Results:

  • Cross-sectional analysis of 48,365 individuals (1,625 V142I carriers) showed no difference in cardiovascular risk factor prevalence by V142I status.
  • Longitudinal analysis of 18,407 individuals (587 V142I carriers) revealed attenuated heart failure risk with a favorable (0-1 RF) profile (aHR: 2.26) versus an unfavorable (3-4 RFs) profile (aHR: 4.14).

Conclusions:

  • A favorable cardiovascular risk factor profile significantly reduces, but does not eliminate, heart failure risk associated with the V142I variant.
  • Maintaining a favorable cardiovascular risk factor profile is important for mitigating heart failure risk in V142I carriers.