Underdiagnosed mutation in African American populations increases risk of heart failure

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An underdiagnosed genetic mutation in people of African descent carries an increased risk for heart failure, according to a study.

When present in those patients, a genetic variant, TTR V122I, could lead to a higher risk of hereditary transthyretin amyloid cardiomyopathy — a potentially fatal disease caused by a protein buildup in the heart. Researchers at Mount Sinai School of Medicine and the University of Pennsylvania School of Medicine published the study [December 10] in the Journal of the American Medical Association.

[Researcher Ron] Do and his colleagues found that 44 percent of people older than 50 had the mutation and heart failure. But only 11 percent of those with the mutation and heart failure were diagnosed with hereditary transthyretin amyloid cardiomyopathy.


Because it takes about three years to be diagnosed with the condition, researchers say it could be underdiagnosed or not diagnosed soon enough.

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The study also demonstrates the importance of studying different racial and ethnic populations, [professor Albert Sun] said. “The more targeted we can understand about racial genetic differences, the better we are going to be able to treat” the population as a whole, he said.

Read full, original post: A genetic mutation is associated with increased risk of heart failure in black people, study finds

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