Abstract
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.
Highlights
To assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriers
Manifestation of skeletal muscle wasting, and cardiomyopathy occurs in males, while female carriers of the defective DMD gene are perceived healthy
Dystrophy has prevalence of 1/3500–60001 affects primarily skeletal muscles, and heart impairment may occur as a c ardiomyopathy[2]
Summary
To assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriers. Manifestation of skeletal muscle wasting, and cardiomyopathy occurs in males, while female carriers of the defective DMD gene are perceived healthy. They have only one functional variant of the gene on one of the X chromosomes. Female carriers do not present rib cage anomalies, we used echocardiography with tissue Doppler imaging as first line method to assess subclinical cardiac dysfunction Our another s tudy[18] with asymptomatic DMD female carriers with preserved left ventricular (LV) ejection fraction (EF) proved lower global longitudinal strain, global
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