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A genetic mutation has been identified for a heart condition affecting Utah families

An animation of a heartbeat and heart.
mohamed_hassan
/
Pixabay

Atrial fibrillation, a fast and sometimes irregular heartbeat, is relatively common in older people. When atrial fibrillation affects young people, especially multiple members of the same family, this points to a genetic factor. In a study of five families with diagnoses of young-onset atrial fibrillation, University of Utah Health researchers used family trees, birth and death records, and genetic data to identify the gene responsible and trace the mutation back through the families’ ancestors.

The genealogical data show that relatives of people with the mutation came from Denmark in the 1700s, immigrated to Northeast United States in the 1800s, and then moved out West to settle in Utah by the early 1900s. Although genealogical data don’t go back that far, genetic data suggest that the mutation arose 5,000 years ago.

Dr. Martin Tristani-Firouzi, a pediatric cardiologist and the senior author on this study, said combining genealogical and genetic data can provide unique insights.

“And for me, that's like one of the most exciting things about the paper is that we're now taking a human disease and we're putting it in the context of human history,” Tristani-Firouzi said.

In this case, Dr. Tristani-Firouzi said, the research will also benefit diagnostic medicine.

“We don't need to screen 3000 people, we can just focus on those pathways that are driving the signal down through the generations, and made sure that those individuals all know that if they get a sensation that their heart is racing, not to ignore it,” Tristani-Firouzi said.

For more information about atrial fibrillation, visit the American Heart Association website at heart.org.

Heartbeat audio is from kim.headlee at freesound.org.

Caroline Long is a science reporter at UPR. She is curious about the natural world and passionate about communicating her findings with others. As a PhD student in Biology at Utah State University, she spends most of her time in the lab or at the coyote facility, studying social behavior. In her free time, she enjoys making art, listening to music, and hiking.