A Genetic Marker of Increased Heart Failure Risk in Black People of African Ancestry

A specific variant in the transthyretin gene may point to a hereditary amyloid cardiomyopathy.

A particular variant in the transthyretin (TTR) gene (Val122le), found more commonly in Black people of African ancestry, results in abnormal folding and extracellular myocardial deposition of the TTR protein. This genetic variant is associated with left-ventricular hypertrophy and prevalent heart failure (HF) in affected individuals. To assess the relation between the variant and the development of HF and other clinical outcomes, researchers retrospectively analyzed data from 7514 self-identified Black individuals (median African ancestry percentage, 84%) without baseline HF, primarily in the southeastern United States.

About 3.1% of the cohort (232 people) had the Val122le TTR variant, which is present in <0.1% of other populations. After …

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)