ROCHESTER, MINN. United States and German scientists have discovered how a genetic defect causes dilated cardiomyopathy (DCM), a form of heart failure that claims 10,000 American lives each year. The research findings are published in Tuesdays edition of Circulation: Journal of the American Heart Association.
The findings suggest how existing medications could help patients with DCM, a condition in which the heart becomes greatly enlarged and loses its ability to pump blood efficiently.
"We predict that drugs that lower blood pressure and the hearts overall workload will not only improve symptoms but lessen heart muscle damage in dilated cardiomyopathy patients with this genetic abnormality," says Timothy M. Olson, M.D., a Mayo Clinic cardiovascular disease specialist and one of the studys two lead authors. "By establishing how the disease develops in these patients, this study provides direction both for improving treatment and long-term research.
"When patients with DCM see their doctors with symptoms of heart failure, heart muscle damage is often extensive, and the only long-term solution may be a transplant," says Dr. Olson. "Through clinical testing of the relatives of patients with the disease, however, we could make an earlier diagnosis and evaluate which patients should consider preventive use of beta blockers or ACE inhibitors."
The study of 350 unrelated patients with dilated cardiomyopathy, conducted in collaboration with the Technical University of Braunschweig and the University of Utah, identified three patients who had distinct defects in the same gene.
The work builds upon research first reported by Mayo Clinic in the early 1990s that showed at least 20 to 30 percent of DCM cases spring from an abnormal gene. While eight other genes associated with DCM have been identified, two of them through research involving Mayo Clinic investigators, the current study is the first to shed light on the mechanism by whi
Contact: Lee Aase