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Review
. 2011 Jan;4(1):67-76.
doi: 10.1161/CIRCIMAGING.110.960740.

Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations

David Verhaert  1 , Kathryn Richards, Jill A Rafael-Fortney, Subha V Raman
Affiliations
Review

Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations

David Verhaert et al. Circ Cardiovasc Imaging. 2011 Jan.
No abstract available

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Figures

Figure 1
Figure 1. Proteins implicated in the muscular dystrophies
Dystrophin is located inside the cell and bound to actin at its N-terminus and to a large oligomeric complex of membrane glycoproteins at its C-terminus. This complex, referred to as the dystrophin-glycoprotein complex (DGC) consists of dystrophin, sarcoglycans (α, β, γ and δ subunits), α- and β dystroglycan, sarcospan and syntrophins. Mutations in the dystrophin gene lead to Becker and Duchenne muscular dystrophy. Mutations in the sarcoglycan subunits cause limb-girdle muscular dystrophy (LGMD). LGMD2I is a distinct form of LGMD caused by a mutation in the FKRP gene, encoding a Golgi apparatus protein. FKRP is involved in the glycosylation of α dystroglycan, necessary for its binding to laminin-α2 and the extracellular matrix. Mutations in the genes encoding emerin and lamin A/C cause a spectrum of “nuclear envelopathies”. X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy belong to this group of diseases, and are both characterized by skeletal muscle wasting, cardiac conduction defects and cardiomyopathy. Distinct LMNA gene mutations have also been associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1B) and with isolated cardiomyopathy and conductive system disease (lamin A/C cardiomyopathy).
Figure 2
Figure 2. CMR findings in Duchenne muscular dystrophy at different stages of the disease
End-diastolic and end-systolic frames (A, B) from a three-chamber long-axis cine acquisition (Supplemental Movie I) show preserved LV systolic function in this 28 year-old male with DMD. Late gadolinium-enhancement images (C: three-chamber view, D: mid-ventricular short-axis view) in the same patient show that despite preserved global LV systolic function, myocardial injury is evident as subepicardial fibrosis of the inferolateral wall (arrowheads). E: LGE in a 14-year old boy with DMD shows more advanced cardiomyopathy with profound LV dilatation and systolic dysfunction (Supplemental Movie II), and more extensive subepicardial scarring as well as septal fibrosis in this patient (arrowheads).
Figure 3
Figure 3. LGE findings in Becker MD
The pattern of myocardial injury in patients with Becker MD is similar to that seen in DMD, starting at the subendocardium of the inferolateral wall with an age-dependent increase in the extent of fibrosis and progressive decline in systolic function. The left and right upper panels (short-axis and horizontal long-axis views, respectively) show almost transmural hyperenhancement of the entire anterolateral and inferolateral walls, consistent with advanced disease. In addition, this patient had also evidence of septal midwall fibrosis (lower middle panel), also seen in myocarditis and other non-ischemic cardiomyopathies.
Figure 4
Figure 4. Cardiomyopathy in a female Duchenne carrier
Coronary angiography and CMR findings in a 58-year old female patient with Duchenne carrier status and chronic heart failure. Upper panels: In spite of normal findings by coronary angiography, transmural scarring of the inferolateral wall is evident by LGE (yellow arrowheads). Lower panels: CMR cine imaging showed severe global biventricular systolic dysfunction, with severe LV dilatation and akinesis of the inferolateral walls. Displacement of the papillary muscles due to global LV dilatation and segmental bulging of the inferolateral wall (white arrowheads) caused severe mitral regurgitation (green arrows, velocity-encoded cine image, lower right panel).
Figure 5
Figure 5. CMR findings in lamin A/C cardiomyopathy
Lamin A/C cardiomyopathy has been associated with midwall fibrosis of the mid-ventricular septum (left panel, red arrow) at an early stage of the disease. Note also the presence of fibrosis at the RV-LV septal insertion sites (yellow arrowheads) in this patient. Unlike patients with different types of LMNA-mutations (EMDM, LGMDB1), lamin A/C cardiomyopathy does not typically produce apparent skeletal muscle weakness. Nevertheless, muscle imaging in these patients may reveal fibrosis of the gastrocnemius muscles (right panel, arrows), suggesting a continuum in the LMNA-gene disorders between phenotypes with selective cardiac involvement and phenotypes with both cardiac and skeletal muscle abnormalities.
Figure 6
Figure 6. Late gadolinium-enhancement findings in LGMD2I
Upper panels: LGE in an 11-year old boy with FKRP mutation. Despite normal LV systolic function, midwall fibrosis of the septum and inferior wall was seen, consistent with early cardiac involvement. Lower panels: LGE in 57-year old patient with FKRP mutation. At an advanced stage of the disease, patients with LGMD2I may develop cardiomyopathy with severe systolic dysfunction and extensive scarring of the lateral walls (yellow arrowheads). The septum is affected as well in this patient (red arrows).
Figure 7
Figure 7. Fat infiltration vs. gadolinium enhancement in dystrophin-associated cardiomyopathy
Left: Late gadolinium enhancement image acquired in the three-chamber plane shows prominent enhancement of the basal inferolateral wall in a patient with Duchenne muscular dystrophy. Middle: Fat-only reconstruction using the multi-echo Dixon method of water and fat separation magnetic resonance imaging shows a thin rim of epimyocardial fat, whereas the corresponding water-only reconstruction shows more extensive hyperenhancement; together, these images suggest a combination of fibrofatty replacement of normal myocardium in this disorder.
See this image and copyright information in PMC

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