“We realized that heart muscle inflammation in ACM is much more complicated than we thought, but also might provide a therapeutic strategy,” says Stephen Chelko, Ph.D., assistant professor of medicine at the Johns Hopkins University School of Medicine and senior author of the new paper, in Sept. in Circulation.
In ACM, patients often harbor mutations in any of the five genes that make up the cardiac desmosome — the gluelike material that holds heart cells together and helps coordinate mechanical and electrical synchronization of heart cells. Because of this, it’s often called “a disease of the cardiac desmosome.” In patients with ACM, heart cells pull apart over time, and these cells are replaced with damaged and inflamed scar tissue. These scars can increase risk of instances of irregular heart rhythms and lead to sudden cardiac death if the scar tissue causes the heart wall to stiffen and renders it unable to pump.
