Posted on December 13, 2019

A Genetic Mutation is Associated with Increased Risk of Heart Failure in Black People, Study Finds

Lateshia Beachum, Washington Post, December 11, 2019

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 Tuesday in the Journal of the American Medical Association.

Heart disease is a leading cause of death among all genders and racial and ethnic groups, but non-Hispanic black people are more than twice as likely to die of it, according to the Centers for Disease Control and Prevention. The discovery underscores the need to study nonwhite populations and their health concerns, clinicians say.


Researchers analyzed the connection between the genetic mutation and heart failure in 9,694 people of African and Latino ancestry. The Latino participants were mainly people from Afro-Caribbean populations, said Ron Do, one of the researchers at the Icahn School of Medicine at Mount Sinai.

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.

Researchers also noticed thickening of the left ventricular wall in young carriers of the mutation, which could be an early indicator of heart failure. Those patients didn’t show any obvious sign of heart failure, but a thickening of the left ventricular wall, the heart’s main blood-pumping chamber, can result in an inability to push blood with enough force.


The study also demonstrates the importance of studying different racial and ethnic populations.