Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy

Eur J Clin Invest. 2017 Dec;47(12). doi: 10.1111/eci.12842. Epub 2017 Oct 26.


Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well-described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers. In parallel, brain MRI identifies smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy and higher white matter radial diffusivity in DMD patients. The in vivo brain evaluation of mdx mice, a surrogate animal model of DMD, showed an increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH. In this paper, we propose a holistic approach using techniques of magnetic resonance imaging, spectroscopy and diffusion tensor imaging as a tool to create a "heart and brain imaging map" in DMD patients that could potentially facilitate the patients' risk stratification and also future research studies in the field.

Keywords: brain magnetic resonance imaging; brain magnetic resonance spectroscopy; cardiovascular magnetic resonance imaging; diffusion tensor imaging; duchenne muscular dystrophy.

Publication types

  • Review

MeSH terms

  • Animals
  • Anisotropy
  • Brain / diagnostic imaging*
  • Brain / metabolism
  • Brain / pathology
  • Cardiomyopathies / diagnostic imaging*
  • Cardiomyopathies / etiology
  • Cognitive Dysfunction / diagnostic imaging*
  • Cognitive Dysfunction / etiology
  • Cognitive Dysfunction / metabolism
  • Cognitive Dysfunction / pathology
  • Diffusion Tensor Imaging
  • Disease Models, Animal
  • Fibrosis
  • Gray Matter / diagnostic imaging
  • Gray Matter / pathology
  • Heart / diagnostic imaging*
  • Heterozygote
  • Humans
  • Hydrogen-Ion Concentration
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Mice
  • Mice, Inbred mdx
  • Muscular Dystrophy, Duchenne / complications
  • Muscular Dystrophy, Duchenne / diagnostic imaging*
  • Muscular Dystrophy, Duchenne / metabolism
  • Myocardium / pathology*
  • Organ Size
  • Phosphates / metabolism
  • Phosphocreatine / metabolism
  • White Matter / diagnostic imaging
  • White Matter / pathology


  • Phosphates
  • Phosphocreatine