Study Reveals Significant Difference in Cardiomyopathy Genes Between Black and White Patients

August 3, 2023

Although at greater risk, a new study found that patients of African ancestry with dilated cardiomyopathy (DCM) were less likely to have clinically actionable variants in DCM genes than those of European ancestry. LSU Health New Orleans is one of the 25 clinical sites nationally that enrolled participants in the study. Professor and Chief of Cardiology Dr. Frank Smart leads the LSU Health New Orleans site. The research, which adds critical genetic information about this understudied population, is published in the Journal of the American Medical Association, available here.

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“Black patients with cardiomyopathy have an increased familial risk, as well as an increased risk of adverse outcomes from cardiomyopathy compared to white patients,” notes Dr. Smart. “Despite knowing the increased risk in black patients, most patients who have been involved in clinical trials for heart failure have been white. Genetic trials associated with heart failure have had an even more significant racial imbalance.”

The multisite study enrolled 1,198 patients with dilated cardiomyopathy, 43.0% of whom were black, 56,8% white, and 8,5% Hispanic. The authors write, “The estimated prevalence of any variant classified as pathogenic, likely pathogenic, or of uncertain significance among African ancestry patients was 57.5%, lower than the estimated 65.1% among European ancestry patients. Among patients with variants classified as pathogenic, likely pathogenic, or of uncertain significance, the estimated odds of having at least 1 pathogenic/likely pathogenic variant were 75% lower for patients of African ancestry compared with patients of European ancestry.

“As our ability to track and impact treatment of genetic cardiomyopathy improves, it is essential that we have characterized all genetic variants associated with heart failure and cardiomyopathy and not just those variants seen in white patients,” Smart adds. “This study was specifically designed to assess the lack of in-depth genetic information associated with cardiomyopathy in blacks. Moving forward, it is essential that we eliminate this racial inconsistency in scientific knowledge and disease pathology in order to improve care in all patient populations.”

Co-authors are from The Ohio State University, MedStar Washington Hospital Center, Cedars-Sinai Medical Center, Washington University, St Louis, Emory University School of Medicine, Perelman School of Medicine, University of Pennsylvania, University of Nebraska Medical Center, Cleveland Clinic, University of Texas Southwestern Medical Center, Houston Methodist DeBakey Heart and Vascular Center, Inova Heart and Vascular Institute, University of Alabama, Birmingham, University of Washington, University of Arizona, Stanford University School of Medicine, Northwestern University Feinberg School of Medicine, New York University Langone Medical Center, Westchester Medical Center and New York Medical College, Miami Cardiac and Vascular Institute, University of Washington, University of California Los Angeles Medical Center, University of Maryland School of Medicine, Medical University of South Carolina, University of Mississippi Medical Center, Tufts Medical Center and Tufts University School of Medicine, Massachusetts General Hospital, and Indiana University School of Medicine.

The research was supported by The Ohio State University and the National Heart, Lung, and Blood Institute of the National Institutes of Health, which included a supplement from the National Human Genome Research Institute.

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