title: Cardiac phosphorus-31 two-dimensional chemical shift imaging in patients with hereditary hemochromatosis.
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.
authors.affiliation: Department of Radiology, University Hospital of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Tyrol, Austria. michael.schocke@uibk.ac.at
authors.forename: Michael F H
authors.initials: MF
authors.lastname: Schocke
authors.forename: Heinz
authors.initials: H
authors.lastname: Zoller
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Vogel
authors.forename: Christian
authors.initials: C
authors.lastname: Wolf
authors.forename: Christian
authors.initials: C
authors.lastname: Kremser
authors.forename: Peter
authors.initials: P
authors.lastname: Steinboeck
authors.forename: Gerhard
authors.initials: G
authors.lastname: Poelzl
authors.forename: Otmar
authors.initials: O
authors.lastname: Pachinger
authors.forename: Werner R
authors.initials: WR
authors.lastname: Jaschke
authors.forename: Bernhard
authors.initials: B
authors.lastname: Metzler
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D000328:Adult; D015415:Biomarkers / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004452:Echocardiography; D004562:Electrocardiography; D005293:Ferritins / Q000097:blood; D020022:Genetic Predisposition to Disease; D006331:Heart Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000378:metabolism; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010725:Phosphocreatine / Q000097:blood; D010759:Phosphorus Isotopes / Q000378:metabolism; D014168:Transferrin / Q000378:metabolism; D014280:Triglycerides / Q000097:blood
chemical_list: D015415:Biomarkers; D008078:Cholesterol, LDL; D010759:Phosphorus Isotopes; D014168:Transferrin; D014280:Triglycerides; D010725:Phosphocreatine; D000255:Adenosine Triphosphate; D005293:Ferritins; D007501:Iron