A genetic variant in the gene transthyretin (TTR)which is found in about 3 percent of individuals of African ancestryis a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers atPenn 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.

The findings, which were published inJAMA, are particularly important given the U.S. Food and Drug Administrations approvalof 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 its perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure, says the studys corresponding authorDaniel J. Rader, chair of the Department of Genetics at Penn Medicine. With the recent advances in treatment, its 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.

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This genetic variant is underdiagnosed, under-recognized, and deadly | Penn Today - Penn: Office of University Communications