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

• Published in: Scientific reports Vol. 10; no. 1; p. 20794
• Main Authors: Kincl, Vladimír, Panovský, Roman, Pešl, Martin, Máchal, Jan, Juříková, Lenka, Haberlová, Jana, Masárová, Lucia
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 27.11.2020; Nature Publishing Group
• Subjects: 692/699/375/374; 692/699/75/74; Adult; Blood Flow Velocity; Cardiac function; Case-Control Studies; Doppler effect; Dystrophy; Echocardiography, Doppler; Female; Heart; Heterozygote; Humanities and Social Sciences; Humans; Middle Aged; Mitral Valve - diagnostic imaging; multidisciplinary; Muscular Dystrophy, Duchenne - diagnostic imaging; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - physiopathology; Science; Science (multidisciplinary); Systole; Tricuspid Valve - diagnostic imaging; Velocity; Ventricular Dysfunction, Left - diagnostic imaging; Ventricular Dysfunction, Left - physiopathology
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-020-77882-6

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.