title: In vivo assessment of myocardial glucose uptake by positron emission tomography in adults with the PRKAG2 cardiac syndrome.
abstract: BACKGROUND
  The PRKAG2 cardiac syndrome is an inherited metabolic disease of the heart characterized by excessive myocardial glycogen deposition. The biochemical alterations associated with this condition remain controversial and have not previously been studied in affected humans.
  
  
  RESULTS
  Positron emission tomography (PET) imaging was used to quantitatively assess myocardial glucose uptake (MGU) in 6 adult subjects with the PRKAG2 cardiac syndrome and 6 healthy, matched control subjects using the glucose analogue (18)F-Fluoro-2-deoxyglucose (FDG). Studies were performed under a euglycemic hyperinsulinemic clamp to ensure stable blood glucose levels. Rubidium-82 perfusion scans were performed to ensure that myocardial differences in myocardial glucose uptake were not the result of significant myocardial scar. In adult patients with phenotypic expression of disease, the median myocardial glucose uptake of the left ventricle was 0.18 mumol/min/g (interquartile range, 0.14, 0.24), compared with 0.40 mumol/min/g (interquartile range, 0.30 to 0.45) in the control group (P=0.01). The median blood glucose during FDG-PET imaging was 4.72 mmol/L (interquartile range, 4.32 to 4.97) in the PRKAG2 group and 4.38 mmol/L (interquartile range, 3.90, 4.79) in the control group (P=NS). The significant decrease observed in myocardial glucose uptake in affected patients occurred in the absence of significant myocardial scar.
  
  
  CONCLUSIONS
  The PRKAG2 cardiac syndrome is associated with a reduction of glucose uptake in adult patients affected with this genetic condition. In this pilot study, (18)F-FDG-PET imaging is a useful tool to assess alterations in myocardial glucose transport in this inherited metabolic disease and provide insight into the biochemical pathophysiology of the diseased state.
authors.affiliation: Division of Cardiology, University of Ottawa Heart Institute, and the Department of Cellular and Molecular Medicine at the University of Ottawa, Ottawa, Ontario K1Y 4W7, Canada.
authors.forename: Andrew C T
authors.initials: AC
authors.lastname: Ha
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Renaud
authors.forename: Robert A
authors.initials: RA
authors.lastname: Dekemp
authors.forename: Stephanie
authors.initials: S
authors.lastname: Thorn
authors.forename: Jean
authors.initials: J
authors.lastname: Dasilva
authors.forename: Linda
authors.initials: L
authors.lastname: Garrard
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Yoshinaga
authors.forename: Arun
authors.initials: A
authors.lastname: Abraham
authors.forename: Martin S
authors.initials: MS
authors.lastname: Green
authors.forename: Rob S B
authors.initials: RS
authors.lastname: Beanlands
authors.forename: Michael H
authors.initials: MH
authors.lastname: Gollob
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D004452:Echocardiography; D005260:Female; D019788:Fluorodeoxyglucose F18 / Q000378:metabolism*; D006331:Heart Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D010641:Phenotype; D011857:Radiographic Image Interpretation, Computer-Assisted; D012414:Rubidium Radioisotopes; D018709:Statistics, Nonparametric; D013577:Syndrome; D014055:Tomography, Emission-Computed
chemical_list: D012414:Rubidium Radioisotopes; D019788:Fluorodeoxyglucose F18; C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases