Genetic variant largely found in patients of African descent increases risk for heart failure

A genetic variant in the gene transthyretin (TTR)—which is found in about 3 percent of  individuals of African ancestry—is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin amyloid cardiomyopathy (hATTR-CM), is significantly under-recognized and underdiagnosed.

African American patient in a hospital bed

The findings, which were published in JAMA, are particularly important given the U.S. Food and Drug Administration’s approval of the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to the new therapy, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.

“Our findings suggest that hATTR-CM is a more common cause of heart failure than it’s perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure,” says the study’s corresponding author Daniel J. Rader, chair of the Department of Genetics at Penn Medicine. “With the recent advances in treatment, it’s critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.”

Read more at Penn Medicine News.