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Association found between gene mutation and rare heart disease


​A strong association between a genetic mutation and a rare kind of heart muscle disease has been discovered by researchers at the University of Colorado Anschutz Medical Campus.

The finding, published this week in the Journal of the American College of Cardiology, could improve understanding of the disease and lead to new treatments.


“There are many kinds of cardiomyopathies that can lead to heart failure so this is a serious problem,” said Teisha J. Rowland, PhD, a post-doctoral fellow in the lab of Luisa Mestroni, MD, and Matthew R. G. Taylor, MD, PhD, at the University of Colorado School of Medicine and first author of the study.

The Mestroni and Taylor lab sequenced nearly 5,000 genes in 335 patients with a family history of heart muscle disease, looking for mutations that could cause a variety of cardiomyopathies.