People who carry a gene change called p.V142I in the transthyretin (TTR) gene — a common cause of hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) — are more likely to develop heart failure and atrial fibrillation starting in their 50s, according to a recent study published in the journal Circulation: Genomic and Precision Medicine.
About 3%-4% of people with African ancestry carry this gene variant. To better understand how much it affects heart health and when symptoms start, researchers looked at data from nearly 78,000 Black participants in the All of Us research program.
They found that 2,213 participants (about 2.8%) had the p.V142I TTR variant. Carriers of the variant were more likely to have heart failure, atrial fibrillation (a type of irregular heartbeat) and carpal tunnel syndrome than noncarriers. The risk of developing these conditions increased during their 50s.
Previous research had already shown that, even before symptoms appear, carriers of the p.V142I TTR variant may already have subtle heart changes in their late 40s and early 50s that increase the chance of developing heart problems later on.
Read more about ATTR-CM prognosis and staging
This study also found that health issues like high blood pressure, diabetes or coronary artery disease can raise the risk of heart failure even more, which makes early and active treatment of these conditions especially important for carriers of the p.V142ITTR variant.
“These observations also confirm the clinical relevance of the p.V142I TTR variant for individuals of African ancestry and underscore the importance of efforts to increase diagnoses, implement TTR-targeted therapies, and evaluate screening strategies for variant transthyretin cardiac amyloidosis,” the researchers said.
They suggest that screening for ATTR-CM in people who carry the p.V142I TTR gene variant should start between ages 50 and 55, since the chances of developing heart problems begin to rise during that time.
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