Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

To assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriers. Forty-four female subjects proved as DMD carriers underwent echocardiographic examination including tissue Doppler imaging (TDI) of mitral and tricuspid annulus. Seventeen age-matched healthy female subjects served as controls. A significant differences in peak systolic annular velocity (Sa) between carriers and controls were found for lateral and septal part of the mitral annulus and for tricuspid annulus (0.09 vs. 0.11 m/s, p < 0.001, 0.08 vs. 0.09 m/s, p < 0.01 and 0.13 vs. 0.14 m/s, p = 0.02 respectively). There was also difference in early diastolic velocity (Ea) of the septal part of the mitral annulus (0.11 vs. 0.13 m/s, p = 0.03). The subclinical deterioration of systolic function is presented even in asymptomatic DMD female carriers.

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

Aim to assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriers Methods Forty-four female subjects proved as DMD carriers underwent echocardiographic examination including tissue Doppler imaging (TDI) of mitral and tricuspid annulus. Seventeen age-matched healthy female subjects served as controls. Results A significant differences in peak systolic annular velocity (Sa) between carriers and controls were found for lateral and septal part of the mitral annulus and for tricuspid annulus (0.09 vs 0.11 m/s, p<0.001, 0.08 vs 0.09 m/s, p<0.01 and 0.13 vs 0.14 m/s, p=0.02 respectively). There was also difference in early diastolic velocity (Ea) of the septal part of the mitral annulus (0.11 vs 0.13 m/s, p=0.03). Conclusion The subclinical deterioration of systolic function is presented even in asymptomatic DMD female carriers.

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

Aim To assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriersMethods Forty-four female subjects proved as DMD carriers underwent echocardiographic examination including tissue Doppler imaging (TDI) of mitral and tricuspid annulus. Seventeen age-matched healthy female subjects served as controls.Results A significant differences in peak systolic annular velocity (Sa) between carriers and controls were found for lateral and septal part of the mitral annulus and for tricuspid annulus (0.09 vs 0.11 m/s, p<0.001, 0.08 vs 0.09 m/s, p<0.01 and 0.13 vs 0.14 m/s, p=0.02 respectively). There was also difference in early diastolic velocity (Ea) of the septal part of the mitral annulus (0.11 vs 0.13 m/s, p=0.03).Conclusion The subclinical deterioration of systolic function is presented even in asymptomatic DMD female carriers.

MYOTONIC DYSTROPHIES: GENETICALLY-BASED DISEASES DUE TO TOXIC RNA

Myotonic dystrophies (DMs, the second most diffuse forms of muscular dystrophy, after Duchenne dystrophy) are genetically-based degenerative neuromuscular diseases exhibiting widely variable clinical features and characterized by myotonia (i.e., a prolonged contraction of skeletal muscles after short stimulation) and a delayed muscle relaxation after voluntary contraction. There are two form of DMs: the more severe DM1 (or Steinert’s disease), and the milder form DM2. The intranuclear accumulation of expanded RNAs is considered as the pathogenetic factor of DMs: the presence of these RNAs exerts a toxic action on cell function which essentially depends on the ectopic sequestration of nuclear protein factors involved in the processing of transcripts. The aim of this mini-symposium is to describe the genetic and cellular bases of DMs, showing how the results of basic research may provide important clues for both diagnosis and therapy.