Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations. 2023

Lucia Masárová, and Roman Panovský, and Martin Pešl, and Mary Luz Mojica-Pisciotti, and Tomáš Holeček, and Vladimír Kincl, and Lenka Juříková, and Jan Máchal, and Lukáš Opatřil, and Věra Feitová
International Clinical Research Centre, St. Anne's University Hospital, Brno, Czech Republic.

Female carriers of dystrophin gene mutations (DMD-FC) were previously considered non-manifesting, but in recent decades, cardiomyopathy associated with muscular dystrophy and myocardial fibrosis has been described. Our study aimed to assess prospectively myocardial fibrosis in asymptomatic DMD-FC compared to a sex-matched control group (CG) with similar age distribution using native T1 mapping and extracellular volume (ECV) quantification by cardiovascular magnetic resonance (CMR) imaging. 38 DMD-FC with verified genetic mutation and 22 healthy volunteers were included. Using CMR, native T1 relaxation time and ECV quantification were determined in each group. Late gadolinium enhancement (LGE) was assessed in all cases. There were 38 DMD-FC (mean age 39.1 ± 8.8 years) and 22 healthy volunteers (mean age 39.9 ± 12.6 years) imagined by CMR. The mean global native T1 relaxation time was similar for DMD-FC and CG (1005.1 ± 26.3 ms vs. 1003.5 ± 25.0 ms; p-value = 0.81). Likewise, the mean global ECV value was also similar between the groups (27.92 ± 2.02% vs. 27.10 ± 2.89%; p-value = 0.20). The segmental analysis of mean ECV values according to the American Heart Association classification did not show any differences between DMD-FC and CG. There was a non-significant trend towards higher mean ECV values of DMD-FC in the inferior and inferolateral segments of the myocardium (p-value = 0.075 and 0.070 respectively). There were no statistically significant differences in the mean global and segmental native T1 relaxation times and the mean global or segmental ECV values. There was a trend towards higher segmental mean ECV values of DMD-FC in the inferior and inferolateral walls of the myocardium.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009206 Myocardium The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow. Muscle, Cardiac,Muscle, Heart,Cardiac Muscle,Myocardia,Cardiac Muscles,Heart Muscle,Heart Muscles,Muscles, Cardiac,Muscles, Heart
D003287 Contrast Media Substances used to allow enhanced visualization of tissues. Radiopaque Media,Contrast Agent,Contrast Agents,Contrast Material,Contrast Materials,Radiocontrast Agent,Radiocontrast Agents,Radiocontrast Media,Agent, Contrast,Agent, Radiocontrast,Agents, Contrast,Agents, Radiocontrast,Material, Contrast,Materials, Contrast,Media, Contrast,Media, Radiocontrast,Media, Radiopaque
D005260 Female Females
D005682 Gadolinium An element of the rare earth family of metals. It has the atomic symbol Gd, atomic number 64, and atomic weight 157.25. Its oxide is used in the control rods of some nuclear reactors.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014481 United States A country in NORTH AMERICA between CANADA and MEXICO.
D020388 Muscular Dystrophy, Duchenne An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) Becker Muscular Dystrophy,Duchenne Muscular Dystrophy,Muscular Dystrophy, Becker,Muscular Dystrophy, Pseudohypertrophic,Becker's Muscular Dystrophy,Cardiomyopathy, Dilated, 3B,Cardiomyopathy, Dilated, X-Linked,Childhood Muscular Dystrophy, Pseudohypertrophic,Childhood Pseudohypertrophic Muscular Dystrophy,Duchenne and Becker Muscular Dystrophy,Duchenne-Becker Muscular Dystrophy,Duchenne-Type Progressive Muscular Dystrophy,Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Becker Type,Muscular Dystrophy, Childhood, Pseudohypertrophic,Muscular Dystrophy, Duchenne Type,Muscular Dystrophy, Duchenne and Becker Types,Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type,Muscular Dystrophy, Pseudohypertrophic, Childhood,Progressive Muscular Dystrophy, Duchenne Type,Pseudohypertrophic Childhood Muscular Dystrophy,Pseudohypertrophic Muscular Dystrophy, Childhood,Duchenne Becker Muscular Dystrophy,Duchenne Type Progressive Muscular Dystrophy,Muscular Dystrophy, Becker's,Muscular Dystrophy, Duchenne-Becker,Pseudohypertrophic Muscular Dystrophy

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