Cardiac phosphorus-31 two-dimensional chemical shift imaging in patients with hereditary hemochromatosis

Magn Reson Imaging. 2004 May;22(4):515-21. doi: 10.1016/j.mri.2004.01.023.

Abstract

Hemochromatosis is a hereditary iron overload syndrome characterized by increased iron storage, followed by liver cirrhosis and is often associated with restrictive cardiomyopathy. The purpose of this study was to detect alterations of cardiac high-energy phosphate metabolism in patients with hereditary hemochromatosis (HHC) prior to the development of structural heart diseases. Therefore cardiac phosphorus-31 two-dimensional chemical shift imaging ((31)P 2D CSI) was employed. Twenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y mutation in the hemochromatosis associated HFE gene and twenty-four male healthy volunteers (mean age 47 +/- 11 years) as age-matched controls were included in this study. Using a 1.5-Tesla whole-body magnetic resonance scanner, electrocardiograph-triggered transversal 31P 2D CSI was performed. Left ventricle mean phosphocreatine (PCr) to beta-adenosine triphosphate (beta-ATP) ratios of patients with HHC (1.60 +/- 0.41) were significantly decreased in comparison to healthy volunteers (1.93 +/- 0.36; p = 0.004). Furthermore, we detected moderate, negative correlations between left ventricular PCr to beta-ATP ratios and transferrin saturation, cholesterol, low-density lipoprotein as well as triglyceride. This study shows that 31P 2D CSI permits the detection of alterations of cardiac high-energy phosphate metabolism in patients with HHC, but without any evidence for heart disease. The decreased PCr to beta-ATP ratios in HHC might be caused by mitochondrial impairment due to cardiac iron overload.

MeSH terms

  • Adenosine Triphosphate / blood
  • Adult
  • Biomarkers / blood
  • Cholesterol, LDL / blood
  • Echocardiography
  • Electrocardiography
  • Ferritins / blood
  • Genetic Predisposition to Disease
  • Heart Diseases / diagnosis*
  • Heart Diseases / genetics
  • Heart Diseases / metabolism*
  • Heart Ventricles / diagnostic imaging
  • Heart Ventricles / metabolism
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Hemochromatosis / metabolism*
  • Homozygote
  • Humans
  • Iron / blood
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Mutation
  • Phosphocreatine / blood
  • Phosphorus Isotopes / metabolism
  • Transferrin / metabolism
  • Triglycerides / blood

Substances

  • Biomarkers
  • Cholesterol, LDL
  • Phosphorus Isotopes
  • Transferrin
  • Triglycerides
  • Phosphocreatine
  • Adenosine Triphosphate
  • Ferritins
  • Iron