Adverse Cardiovascular Outcomes in Black Individuals with the Transthyretin Variant V142I

Data from large U.S. cohort studies show increased long-term risks for heart failure hospitalization and death.

Transthyretin amyloidosis (ATTR) results from the deposition of misfolded transthyretin (TTR) proteins in tissues, including the heart, and can result in symptomatic cardiomyopathy or neuropathy. A genetic risk factor for ATTR — the V142I variant of the TTR gene — has been reported relatively commonly (3%–4%) among Black individuals in the U.S. To ascertain the clinical risk of this genotype, researchers pooled data from four large epidemiological cohort studies comprising 23,338 self-reported Black individuals.

Results were as follows:

754 individuals had the V142I variant (3.2%).
Demographic and clinical characteristics of carriers (mean age, 61 years; 78% women; 62% with hypertension; 21% with diabetes) were similar to those of noncarriers.…

Reviewing Author

Frederick A. Masoudi, MD, MSPH, MACC, FAHA

Disclosures

Consultant/Advisory BoardBristol Myers Squibb; CPC Clinical Research

Grant/Research SupportNational Heart, Lung, and Blood Institute

Editorial BoardsUpToDate; American College of Cardiology Self-Assessment Program (SAP)

Leadership Positions in Professional SocietiesAmerican College of Cardiology (Chair, Innovations Committee)