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Variant Linked to Heart Failure Risk

A genetic alteration appears to increase heart failure risk among people of African descent, the Washington Post reports.

Researchers from the University of Pennsylvania and the Icahn School of Medicine at Mount Sinai examined the association between the TTR V122I variant and heart failure risk. TTR V122I, they note, is associated with the autosomal-dominant disorder hereditary transthyretin amyloidosis, which can lead to heart failure in elderly individuals of African ancestry. In their study, which appears in the Journal of the American Medical Association this week, researchers sought to examine whether this variant is linked to heart failure.

By studying 9,694 participants from two biobank registries of Africa and Latino ancestries, Penn Medicine Biobank and the Mount Sinai BioMe Biobank, the researchers found that individuals with the TTR V122I variant were much more likely to experience heart failure.

Study author Girish Nadkarni from Mount Sinai tells the Post that the results are timely as the US Food and Drug Administration recently approved a therapy targeting this mutation. "Now that there is treatment, there needs to be a better way to diagnose the disease," he says.

But New York University Langone Health's Alex Reyentovich, who was not involved in the study, tells the Post that the new drug costs $250,000 and may be out of reach for many patients.