Duchenne disease research continues

The research of another team from the International Clinical Research Center of St. Anne’s University Hospital Brno – Nuclear Cardiology – focused on patients with Duchenne muscular dystrophy (DMD). Doc. MUDr. Vladimir Kincl, Ph.D. from the Faculty of Medicine, Masaryk University, the leader of research team, focused on women who are carriers of this disease.

Duchenne muscular dystrophy is a congenital disease caused by a mutation in the gene encoding the dystrophin protein. It is a deadly, as yet incurable disease that manifests clinically in boys. However, the mothers of these boys, who are carriers of this gene, also have a risk of heart disease, which is relatively difficult to detect at an early stage.

An article with the results of the study entitled “Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers” was published in the Scientific Reports (Impact Factor 4).

The study included 44 patients who were proved to be carriers of DMD and seventeen healthy women as control group. Evaluation of cardiac function was performed by echocardiographic examination, including tissue Doppler imaging of the mitral and tricuspid annulus. “Significant differences were found in the peak systolic velocity for the lateral and septal part in the mitral annulus, as well as in the tricuspid annulus,” said doc. Kincl. “The main result of our study was the fact that even DMD carriers without clinical symptoms have signs of subclinical impairment of systolic function of the heart muscle.”

The study can be found here: