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July 17, 2025
Researchers at UAB, studying a diverse population discovered that approximately 1 in 140 U.S. adults carries a genetic mutation that may raise the risk of inherited heart muscle diseases, or cardiomyopathies. These mutations were found across all ethnic groups with the highest prevalence in South Asian Americans.
“Although cardiomyopathies are typically viewed as rare, our study reveals that these genetic variants are relatively common in large multi-ancestry populations,” said Dr. Pankaj Arora lead investigator and director of the UAB Cardiogenomics Clinic.
The study found that individuals with these genetic variants were over twice as likely to develop heart failure more than four times as likely to experience cardiomyopathy, and nearly twice as likely to suffer from irregular heart rhythms or arrhythmias, during their lifetime.
By applying advanced statistical models that consider the typical age of disease onset the team confirmed that elevated risk was consistent across all groups—highlighting the wide-reaching significance of their findings.
Genetic Testing
The researchers emphasize the importance of genetic testing and early intervention in cardiac care particularly for those with personal or family histories of unexplained heart conditions.
“With genomic sequencing advancements we can now identify high-risk individuals earlier and personalize their care” said Dr. Garima Arora co-investigator and co-director of the UAB Cardiogenomics Clinic.
The team recommends a two-step approach:
Test patients with unexplained heart issues for genetic variants.
Screen family members if a concerning variant is found.
“This is more than a discovery — it’s a call to action,” Arora emphasized. “Genomics should be a routine part of cardiovascular care.”
Learn more at the UAB Cardiovascular Institute.
Source;https://www.uab.edu/news/research-innovation/study-links-genetic-variants-to-increased-risk-of-heart-failure