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Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations

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 asymptomat...

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Autores principales: Masárová, Lucia, Panovský, Roman, Pešl, Martin, Mojica-Pisciotti, Mary Luz, Holeček, Tomáš, Kincl, Vladimír, Juříková, Lenka, Máchal, Jan, Opatřil, Lukáš, Feitová, Věra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496385/
https://www.ncbi.nlm.nih.gov/pubmed/37697356
http://dx.doi.org/10.1186/s13023-023-02899-9
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author Masárová, Lucia
Panovský, Roman
Pešl, Martin
Mojica-Pisciotti, Mary Luz
Holeček, Tomáš
Kincl, Vladimír
Juříková, Lenka
Máchal, Jan
Opatřil, Lukáš
Feitová, Věra
author_facet Masárová, Lucia
Panovský, Roman
Pešl, Martin
Mojica-Pisciotti, Mary Luz
Holeček, Tomáš
Kincl, Vladimír
Juříková, Lenka
Máchal, Jan
Opatřil, Lukáš
Feitová, Věra
author_sort Masárová, Lucia
collection PubMed
description 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 T(1) 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 T(1) 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 T(1) 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 T(1) 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02899-9.
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spelling pubmed-104963852023-09-13 Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations Masárová, Lucia Panovský, Roman Pešl, Martin Mojica-Pisciotti, Mary Luz Holeček, Tomáš Kincl, Vladimír Juříková, Lenka Máchal, Jan Opatřil, Lukáš Feitová, Věra Orphanet J Rare Dis Research 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 T(1) 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 T(1) 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 T(1) 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 T(1) 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-023-02899-9. BioMed Central 2023-09-11 /pmc/articles/PMC10496385/ /pubmed/37697356 http://dx.doi.org/10.1186/s13023-023-02899-9 Text en © The Author(s) 2023, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Masárová, Lucia
Panovský, Roman
Pešl, Martin
Mojica-Pisciotti, Mary Luz
Holeček, Tomáš
Kincl, Vladimír
Juříková, Lenka
Máchal, Jan
Opatřil, Lukáš
Feitová, Věra
Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title_full Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title_fullStr Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title_full_unstemmed Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title_short Myocardial native T(1) mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
title_sort myocardial native t(1) mapping and extracellular volume quantification in asymptomatic female carriers of duchenne muscular dystrophy gene mutations
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496385/
https://www.ncbi.nlm.nih.gov/pubmed/37697356
http://dx.doi.org/10.1186/s13023-023-02899-9
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