Pankaj Arora, M.D., and Garima Arora, M.D., recently published a study that shows carriers of specific genetic variants face significantly elevated risks of heart failure, cardiomyopathy, and arrhythmia—highlighting the potential of targeted genetic screening.A study from researchers the University of Alabama at Birmingham Marnix E. Heersink School of Medicine finds that people who inherit certain genetic traits are more than twice as likely to develop specific heart problems at some point in their lives.

Published in Circulation: Genomic and Precision Medicine, the study uses genetic and clinical data from more than 167,000 participants in the All of Us Research Program. The research team at UAB, working with individuals from varying backgrounds, found that about one in every 140 adults in the United States has a genetic mutation, also known as an alteration in the gene, that can increase the risk for inherited heart muscle diseases or cardiomyopathies. These variants were present in people from all backgrounds, with the highest rates among South Asian Americans.

“While cardiomyopathies are often considered rare, our findings show that these genetic variants are not uncommon, especially in large, multi-ancestry cohorts,” said Pankaj Arora, M.D., lead investigator and director of the UAB Cardiogenomics Clinic.

The study revealed that people with these genetic changes were found to be more than twice as likely to develop heart failure, over four times more likely to have a cardiomyopathy, and about twice as likely to have irregular heartbeats, or arrhythmias, at some point in their lives.

Using advanced statistical models that account for when in life people tend to develop the diseases, the research team demonstrated that risk was elevated across all groups, supporting the broad relevance of their findings.

Genetic testing

The researchers suggest that genetic testing and early intervention should play a large role in heart care, especially for people with personal or family histories of unexplained heart conditions.

“With advances in genomic sequencing, we now have a real opportunity to intervene earlier and tailor care for those at greatest risk,” said Garima Arora, M.D., co-investigator and co-director of the UAB Cardiogenomics Clinic.

The researchers recommend a two-step approach to using genetics in heart care:

• Test people with unexplained heart problems for these variants.
• Offer genetic screening to family members if someone is found to carry a concerning variant.

“This isn’t just a discovery — it’s a call to action,” Arora said. “This study proves that integrating genomics into cardiovascular care can and should be a part of everyday clinical decision-making.”

To learn more about the cardiogenomics research, visit the UAB Cardiovascular Institute.