Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging
Juliane Goebel1, Karolin Schult1, Ulrike Schara2
1Department of Diagnostic and Interventional Radiology and Neuroradiology, 39081University Hospital Essen, Essen, Germany.
Insights
Cardiac involvement is common in muscular dystrophies, affecting skeletal muscles and the heart. This study found high rates of cardiac abnormalities in Duchenne (DMD), Becker (BMD), and limb girdle muscular dystrophy (LGMD) patients and carriers.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Muscular dystrophies can affect cardiac muscle (myocardium), leading to significant morbidity and mortality.
- Cardiac involvement is a critical concern in managing patients with muscular dystrophies.
Purpose of the Study:
- To investigate cardiac involvement in Duchenne (DMD), Becker (BMD), and limb girdle muscular dystrophy (LGMD) patients and carriers using cardiac magnetic resonance (CMR).
- To identify distinct patterns of cardiac involvement across different muscular dystrophy types and carriers.
Main Methods:
- Retrospective analysis of CMR data from DMD, BMD, LGMD patients, and DMD/BMD carriers (2008-2018).
- Evaluation of regional/global left ventricular function, trabecularization, and late gadolinium enhancement (LGE).
Main Results:
- High prevalence of cardiac abnormalities observed in all groups except one DMD carrier.
- Regional wall motion abnormalities (RWMA) were frequent (55% in LGMD) and LGE (82% in LGMD).
- RWMA patterns differed: basal inferolateral in DMD/BMD carriers, apical in LGMD. LGE was predominantly subepicardial/midmyocardial with basal inferolateral accentuation.
Conclusions:
- Cardiac involvement is prevalent in DMD, BMD, LGMD, and their carriers.
- A distinct pattern of RWMA (apical in LGMD, basal inferolateral in DMD/BMD carriers) is a key group-specific finding.
Background:
In muscular dystrophies, it is not only skeletal muscles that can be affected, but also the myocardium. This cardiac involvement can represent a major cause of morbidity and mortality.
Purpose:
To investigate cardiac involvement in Duchenne (DMD), Becker (BMD), and limb girdle muscular dystrophy (LGMD) patients, and carriers of DMD/BMD by cardiac magnetic resonance (CMR) imaging and to search for differences in the pattern of cardiac involvement.
Material And Methods:
All patients with genetically or histologically proven DMD, BMD, and LGMD, or confirmed carriers of DMD/BMD who had undergone CMR at our clinic between January 2008 and November 2018 were retrospectively included and re-evaluated for regional and global left ventricular function, increased trabecularization, and late enhancement.
Results:
A total of 26 DMD, 10 BMD, 11 LGMD, and seven DMD/BMD carriers were included. Only one carrier of DMD presented with normal CMR results; all other participants showed cardiac abnormalities. Regional wall motion abnormalities (RWMA; prevalence in LGMD patients: 55%) and late enhancement (prevalence in LGMD patients: 82%) were frequent. RWMA were accentuated basal inferolateral in DMD/BMD carriers, while in LGMD they were accentuated apical. In all groups late enhancement was located mainly subepicardial/midmyocardial with a basal inferolateral accentuation. Apart from the different RWMA distribution, no further group-specific differences were found.
Conclusion:
We found a high rate of cardiac involvement not only in DMD/BMD, but also in LGMD and DMD/BMD carriers with a different RWMA accentuation (apical in LGMD and basal inferolateral in DMD/BMD) as a single group-specific difference.
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