Publication detail

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

MASÁROVÁ, L. PANOVSKÝ, R. PEŠL, M. LUZ MOJICA-PISCIOTTI, M. HOLEČEK, T. KINCL, V. MÁCHAL, J. OPATŘIL, L. FEITOVÁ, V. JUŘÍKOVÁ, L.

Original Title

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

Type

journal article in Web of Science

Language

English

Original 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.

Keywords

Cardiac magnetic resonance; Duchenne muscular dystrophy; Native T-1 mapping; Extracellular volume quantification; Late gadolinium enhancement

Authors

MASÁROVÁ, L.; PANOVSKÝ, R.; PEŠL, M.; LUZ MOJICA-PISCIOTTI, M.; HOLEČEK, T.; KINCL, V.; MÁCHAL, J.; OPATŘIL, L.; FEITOVÁ, V.; JUŘÍKOVÁ, L.

Released

1. 9. 2023

Publisher

BMC

Location

LONDON

ISBN

1750-1172

Periodical

Orphanet Journal of Rare Diseases

Year of study

18

Number

1

State

United Kingdom of Great Britain and Northern Ireland

Pages from

1

Pages to

9

Pages count

9

URL

https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02899-9

Full text in the Digital Library

http://hdl.handle.net/11012/245060

BibTex

@article{BUT185523,
  author="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}",
  title="Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations",
  journal="Orphanet Journal of Rare Diseases",
  year="2023",
  volume="18",
  number="1",
  pages="1--9",
  doi="10.1186/s13023-023-02899-9",
  issn="1750-1172",
  url="https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02899-9"
}