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

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dc.contributor.authorMasárová, Luciacs
dc.contributor.authorPanovský, Romancs
dc.contributor.authorPešl, Martincs
dc.contributor.authorLuz Mojica-Pisciotti, Marycs
dc.contributor.authorHoleček, Tomášcs
dc.contributor.authorKincl, Vladimírcs
dc.contributor.authorJuříková, Lenkacs
dc.contributor.authorMáchal, Jancs
dc.contributor.authorOpatřil, Lukášcs
dc.contributor.authorFeitová, Věracs
dc.coverage.issue1cs
dc.coverage.volume18cs
dc.date.issued2023-09-01cs
dc.description.abstractBackground 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.en
dc.formattextcs
dc.format.extent1-9cs
dc.format.mimetypeapplication/pdfcs
dc.identifier.citationOrphanet Journal of Rare Diseases. 2023, vol. 18, issue 1, p. 1-9.en
dc.identifier.doi10.1186/s13023-023-02899-9cs
dc.identifier.issn1750-1172cs
dc.identifier.orcid0000-0001-8805-668Xcs
dc.identifier.other185523cs
dc.identifier.urihttp://hdl.handle.net/11012/245060
dc.language.isoencs
dc.publisherBMCcs
dc.relation.ispartofOrphanet Journal of Rare Diseasescs
dc.relation.urihttps://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02899-9cs
dc.rightsCreative Commons Attribution 4.0 Internationalcs
dc.rights.accessopenAccesscs
dc.rights.sherpahttp://www.sherpa.ac.uk/romeo/issn/1750-1172/cs
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/cs
dc.subjectCardiac magnetic resonanceen
dc.subjectDuchenne muscular dystrophyen
dc.subjectNative T-1 mappingen
dc.subjectExtracellular volume quantificationen
dc.subjectLate gadolinium enhancementen
dc.titleMyocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutationsen
dc.type.driverarticleen
dc.type.statusPeer-revieweden
dc.type.versionpublishedVersionen
sync.item.dbidVAV-185523en
sync.item.dbtypeVAVen
sync.item.insts2025.02.03 15:39:58en
sync.item.modts2025.01.17 15:29:32en
thesis.grantorVysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií. Ústav biomedicínského inženýrstvícs
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