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. 2019 Jan 9;14(1):10.
doi: 10.1186/s13023-018-0986-0.

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Roman Panovský  1   2 , Martin Pešl  3   4   5 , Tomáš Holeček  3   6 , Jan Máchal  3   7 , Věra Feitová  3   6 , Lenka Mrázová  8 , Jana Haberlová  9 , Alžběta Slabá  9 , Pavel Vít  10 , Veronika Stará  11 , Vladimír Kincl  3   4
Affiliations

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Roman Panovský et al. Orphanet J Rare Dis. .

Abstract

Background: The progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limited data on using parametric imaging in these patients. The purpose of this study was to assess native T1 and extracellular volume (ECV) values in DMD patients.

Methods: The Czech population of males with DMD/BMD was screened. All eligible patients fulfilling the inclusion criteria were included. Forty nine males underwent cardiac magnetic resonance (MR) examination including T1 native and post-contrast mapping measurements. One DMD patient and all BMD patients were excluded from statistical analysis. Three groups were compared - Group D1 - DMD patients without late gadolinium enhancement (LGE) (n = 23), Group D2 - DMD patients with LGE (n = 20), and Group C - gender matched controls (n = 13).

Results: Compared to controls, both DMD groups had prolonged T1 native relaxation time. These results are concordant in all 6 segments as well as in global values (1041 ± 31 ms and 1043 ± 37 ms vs. 983 ± 15 ms, both p < 0.05). Group D2 had significantly increased global ECV (0.28 ± 0.044 vs. 0.243 ± 0.013, p < 0.05) and segmental ECV in inferolateral and anterolateral segments in comparison with controls. The results were also significant after adjustment for subjects' age.

Conclusion: DMD males had increased native T1 relaxation time independent of the presence or absence of myocardial fibrosis. Cardiac MR may provide clinically useful information even without contrast media administration.

Keywords: Cardiac magnetic resonance; Cardiomyopathy; Duchene muscular dystrophy; T1 mapping; extracellular volume.

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Conflict of interest statement

Authors’ information

Not applicable.

Ethics approval and consent to participate

The study was performed in accordance with the Declaration of Helsinki (2000) of the World Medical Association, and was approved by the institutional ethics committee (University Hospital Brno, reference number 20130410–03). Written informed consent was obtained from the subjects and/or their legally authorized representative.

Consent for publication

No person’s personal data are published.

Competing interests

The authors declare that they have no competing interests.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Regional myocardial fibrosis in Duchene Muscular Dystrophy patients – a short axis view with inferolateral late gadolinium enhancement
Fig. 2
Fig. 2
Regional myocardial fibrosis in Duchene Muscular Dystrophy patients – a four-chamber view with anterolateral late gadolinium enhancement
Fig. 3
Fig. 3
T1 mapping evaluation- native T1 and extracellular volume (ECV) quantification – increased native T1 in all left ventricular segments, increased ECV in anterolateral and inferolateral segments
Fig. 4
Fig. 4
Cluster dendrogram - vertical bars denote the distance between cases and/or their clusters based on the standardized values of cardiac MR parameters - left and right ventricle volumes, segmental T1 native and ECV parameters. Only patients with complete cardiac MR data and genetic analysis are included. A = exon 2–20; B = exon 21–42; C = exon 43–50; D = exon 51+; P = point mutation; U = unknown
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