Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
Loading...
Date
2023-09-01
Authors
Masárová, Lucia
Panovský, Roman
Pešl, Martin
Luz Mojica-Pisciotti, Mary
Holeček, Tomáš
Kincl, Vladimír
Juříková, Lenka
Máchal, Jan
Opatřil, Lukáš
Feitová, Věra
ORCID
0000-0001-8805-668XAdvisor
Referee
Mark
Journal Title
Journal ISSN
Volume Title
Publisher
BMC
Altmetrics
Abstract
Background 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. Materials and methods 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. Results 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). Conclusion 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.
Description
Citation
Orphanet Journal of Rare Diseases. 2023, vol. 18, issue 1, p. 1-9.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02899-9
https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02899-9
Document type
Peer-reviewed
Document version
Published version
Date of access to the full text
Language of document
en