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Transthyretin (TTR) gene variants may increase the risk of heart failure and other cardiac complications. A specific TTR gene variant at position 122 (V142I) is particularly common among middle-aged Black patients. The TTR V142I variant is characterized by a valine-to-isoleucine substitution and is a significant cause of cardiac amyloidosis. Although research is ongoing, one particular study evaluated the association between the TTR V142I variant and cardiac structure, cardiac function, and the risk of heart failure in Black adults.

The study, published in the Journal of the American College of Cardiology, included data from the Jackson Heart Study participants. Researchers assessed whether the TTR V142I variant was associated with baseline echocardiographic parameters and levels of high-sensitivity cardiac ​​troponin-I (hs-cTnI). Researchers analyzed the data using linear regression and linear mixed models. Researchers also analyzed data on the association of the TTR V142I variant with heart failure and hospitalizations from heart failure.

The study found that 119 of 2,960 participants (4%) were heterozygous carriers of the TTR V142I variant. Although the variant was not associated with baseline cardiac parameters, the variant was associated with a more significant increase in high-sensitivity troponin-I levels over time. Participants with the TTR V142I variant also showed an increased risk of heart failure and hospitalizations from heart failure.

Black patients with the TTR V142I variant may be at a higher risk of cardiac complications due to the TTR V142I variant. However, the TTR V142I variant is not associated with adverse cardiac modeling. Still, healthcare providers should assess the risk of myocardial injury in patients of African ancestry. Healthcare providers may also need to monitor the risk of heart failure in patients with the TTR V142I variant to prevent heart failure hospitalizations.


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Coniglio, A. C., Segar, M. W., Loungani, R. S., Savla, J. J., Grodin, J. L., Fox, E. R., Garg, S., De Lemos, J. A., Berry, J. D., Drazner, M. H., Shah, S., Hall, M. E., Shah, A., Khan, S. S., Mentz, R. J., & Pandey, A. (2022). Transthyretin V142I genetic variant and cardiac remodeling, injury, and heart failure risk in Black adults. Journal of the American College of Cardiology: Heart Failure, 10(2), 129-138. https://doi.org/10.1016/j.jchf.2021.09.006

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