Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F23%3A00078356" target="_blank" >RIV/00159816:_____/23:00078356 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00132072 RIV/00216305:26220/23:PU149675 RIV/65269705:_____/23:00078356
Result on the web
<a href="https://link.springer.com/content/pdf/10.1186/s13023-023-02899-9.pdf" target="_blank" >https://link.springer.com/content/pdf/10.1186/s13023-023-02899-9.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13023-023-02899-9" target="_blank" >10.1186/s13023-023-02899-9</a>
Alternative languages
Result language
angličtina
Original language name
Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
Original language 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 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
<a href="/en/project/EF16_019%2F0000868" target="_blank" >EF16_019/0000868: Molecular, cellular and clinical approach to healthy ageing</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Orphanet Journal of Rare Diseases
ISSN
1750-1172
e-ISSN
1750-1172
Volume of the periodical
18
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
283
UT code for WoS article
001065942100002
EID of the result in the Scopus database
2-s2.0-85170368666