Genetic variation linked to heart failure underdiagnosed in African Americans

Genetic variation linked to heart failure underdiagnosed in African Americans

Researchers at medical schools in New York and Pennsylvania have highlighted a genetic variation that increases the odds of heart failure among African Americans and Latinos. Other research has shown that African Americans are more than twice as likely to die from heart disease than people of other races.

Greater occurrence of this genetic variation may be one reason. Although Latinos have higher rates of the genetic variation, they generally have lower rates of heart disease overall.

The variation at issue causes proteins the body creates to fold abnormally. The defunct proteins build up in different areas of the body, causing problems.

One place they can pile up is the heart. This accumulation leads to a condition called cardiac amyloidosis [ah-muh-loy-DOS-is]. This buildup in heart muscle prevents the heart from relaxing adequately after it contracts. That can lead to an increase in tension and pressure in the heart, and the heart’s electrical signals may become wonky, causing erratic heartbeats.

Ultimately, this can result in heart failure. Some people with this condition need a heart transplant.

The research also showed that most people with cardiac amyloidosis who had the genetic variation in this study were not properly diagnosed. Those people are not getting the right treatment to avoid the need for a heart transplant.

With fresh understanding of the prevalence of the genetic variation among African Americans, doctors should be on notice to test for it to ensure proper diagnosis. And with a new medicine recently put on the market, maybe we’re on track to helping more of our neighbors maintain healthy hearts.

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