Cardiovascular burden of TTR gene variant among Black carriers across mid to late-life

By Dr. Priyom Bose, Ph.D.May 15 2024Reviewed by Danielle Ellis, B.Sc. A recent JAMA Network study explored the cardiovascular burden and natural history of the V142I variant of the transthyretin gene. This study was conducted among US Black carriers in mid- to late life.

About the study Data on Black participants from four large US-based observational studies were combined to understand the natural history of disease in V142I carriers. The geographically diverse cohorts led to more generalizable and accurate risk estimation, years of life lost among V142I carriers, analysis of effect modifiers, and the ability to assess less frequent outcomes.

Study findings The key contribution of this study was to provide more accurate estimates of cardiovascular risk across mid to late life, compared to previously existing analyses. A strong dependence on age was noted, but the risk was not affected by sex. This was indicative of the underdiagnosis of ATTRv-CA in women, given that some studies have documented phenotypic penetration being predominant in males.

Related StoriesIt is important to note that ATTRv-CA is not noted in all carriers with HFrEF. This is because other causes of cardiomyopathy could also put carriers at risk. A second important reason for detecting ATTR-CA in the HFrEF population is the likelihood that some guideline-directed medical therapies will not be taken seamlessly in ATTR-CA.

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