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CLINICAL STUDY: METABOLISM

Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy

Jenifer G. Crilley, MB, ChB, MRCP^* , Ernest A. Boehm, DPhil, Bheeshma Rajagopalan, MB, DPhil, ChB, FRCP^*, Andrew M. Blamire, PhD^*, Peter Styles, DPhil^*, Francesco Muntoni, MD, FRCPCH, David Hilton-Jones, MD, FRCP and Kieran Clarke, PhD

^* Biochemical and Clinical Magnetic Resonance Unit, John Radcliffe Hospital, Oxford, United Kingdom
BHF Molecular Cardiology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford,United Kingdom
Department of Pediatrics and Neonatal Medicine, Imperial College of Medicine, Hammersmith Campus, London, United Kingdom
Muscle and Nerve Centre, Radcliffe Infirmary, Oxford, United Kingdom

Manuscript received December 20, 1999; revised manuscript received May 30, 2000, accepted July 14, 2000.

Reprint requests and correspondence: Dr. J. G. Crilley, Biochemical and Clinical Magnetic Resonance Unit, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, United Kingdom.
jcrilley{at}bioch.ox.ac.uk

OBJECTIVES

Our aim was to measure the cardiac phosphocreatine to adenosine triphosphate ratio (PCr/ATP) noninvasively in patients and carriers of Xp21 muscular dystrophy and to correlate the results with left ventricular (LV) function as measured by echocardiography.

BACKGROUND

Duchenne and Becker muscular dystrophy (the Xp21 dystrophies) are associated with the absence or altered expression of dystrophin in cardiac and skeletal muscles. They are frequently complicated by cardiac hypertrophy and dilated cardiomyopathy. The main role of dystrophin is believed to be structural, but it may also be involved in signaling processes. Defects in energy metabolism have been found in skeletal muscle in patients with Xp21 muscular dystrophy. We therefore hypothesized that a defect in energy metabolism may be part of the mechanism leading to the cardiomyopathy of Xp21 muscular dystrophy.

METHODS

Thirteen men with Becker muscular dystrophy, 10 female carriers and 23 control subjects were studied using phosphorus-31 magnetic resonance spectroscopy and echocardiography.

RESULTS

The PCr/ATP was significantly reduced in patients (1.55 ± 0.37) and carriers (1.37 ± 0.25) as compared with control subjects (2.44 ± 0.33; p < 0.0001 for both groups). The PCr/ATP did not correlate with LV ejection fraction or mass index.

CONCLUSIONS

Altered expression of dystrophin leads to a reduction in the PCr/ATP. Since this reduction did not correlate with indexes of left ventricular function, this raises the possibility of a direct link between altered dystrophin expression and the development of cardiomyopathy in such patients.

Abbreviations and Acronyms   1D-CSI = one-dimensional chemical shift imaging   BMD = Becker muscular dystrophy   DMD = Duchenne muscular dystrophy   FID = free induction decay   LV = left ventricular   PCr/ATP = phosphocreatine to adenosine triphosphate ratio   31P-MRS = phosphorus-31 magnetic resonance spectroscopy   TE = echo time   TR = relaxation time   TTE = transthoracic echocardiogram

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