PMID- 21149315
OWN - NLM
STAT- MEDLINE
DCOM- 20110623
LR  - 20220331
IS  - 1879-0844 (Electronic)
IS  - 1388-9842 (Linking)
VI  - 13
IP  - 3
DP  - 2011 Mar
TI  - Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme 
      replacement therapy using recombinant human galactosidase A.
PG  - 278-83
LID - 10.1093/eurjhf/hfq211 [doi]
AB  - AIMS: In vitro studies have shown impairment of energy metabolism in cardiac 
      fibroblasts from Fabry patients. A recent in vivo study reported an association 
      between cardiac energy metabolism and increased myocardial mass in Fabry 
      patients. We therefore assessed possible disturbances of cardiac energy 
      metabolism in Fabry patients by in vivo (31)P-MR-spectroscopy. Additionally, the 
      effect of enzyme replacement therapy (ERT) on cardiac energetics was tested. 
      METHODS AND RESULTS: Twenty-three patients (41 +/- 9 years; 10 females) with 
      genetically proven Fabry disease were examined with a 1.5 T Scanner, and compared 
      with an age-matched healthy control group. Eight patients underwent ERT and had 
      follow-up examinations after 3 and 14 months. The high-energy phosphate molecules 
      phosphocreatine (PCr) and adenosine triphosphate (ATP) were quantified in 
      localized 31P-spectra by SLOOP (spectral localization with optimum point spread 
      function). Cine- and late gadolinium enhancement (LGE) studies were also 
      performed. When compared with healthy controls, Fabry patients demonstrated 
      reduced PCr- (6.1 +/- 1.9 vs. 8.8 +/- 2.6 mmol/kg; P = 0.003) and ATP concentrations 
      (3.9 +/- 1.5 vs. 4.6 +/- 1.0 mmol/kg; P = 0.048). During ERT, PCr concentrations 
      increased (7.1 +/- 1.5 mmol/kg vs. 6.1 +/- 1.9; P < 0.05) and left ventricular mass 
      decreased (215 +/- 55 vs. 185 +/- 45 g; P = 0.012). Disturbances in cardiac 
      energetics were not correlated to the presence or absence of cardiac fibrosis on 
      LGE. CONCLUSION: Cardiac energy metabolism is disturbed in Fabry disease; this 
      may play an important role in the pathogenesis of Fabry cardiomyopathy. Enzyme 
      replacement therapy ameliorates energetic depression.
FAU - Machann, Wolfram
AU  - Machann W
AD  - Institut fur Rontgendiagnostik, Universitat Wurzburg, Josef-Schneider-Str. 2, 
      97080 Wurzburg, Germany.
FAU - Breunig, Frank
AU  - Breunig F
FAU - Weidemann, Frank
AU  - Weidemann F
FAU - Sandstede, Jorn
AU  - Sandstede J
FAU - Hahn, Dietbert
AU  - Hahn D
FAU - Kostler, Herbert
AU  - Kostler H
FAU - Neubauer, Stefan
AU  - Neubauer S
FAU - Wanner, Christoph
AU  - Wanner C
FAU - Beer, Meinrad
AU  - Beer M
LA  - eng
PT  - Journal Article
DEP - 20101212
PL  - England
TA  - Eur J Heart Fail
JT  - European journal of heart failure
JID - 100887595
RN  - EC 3.2.1.22 (alpha-Galactosidase)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Energy Metabolism/*drug effects
MH  - Enzyme Replacement Therapy/*methods
MH  - Fabry Disease/*metabolism/therapy
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Magnetic Resonance Spectroscopy
MH  - Male
MH  - Middle Aged
MH  - Myocardium/*metabolism/pathology
MH  - alpha-Galactosidase/*genetics/pharmacology/therapeutic use
EDAT- 2010/12/15 06:00
MHDA- 2011/06/24 06:00
CRDT- 2010/12/15 06:00
PHST- 2010/12/15 06:00 [entrez]
PHST- 2010/12/15 06:00 [pubmed]
PHST- 2011/06/24 06:00 [medline]
AID - hfq211 [pii]
AID - 10.1093/eurjhf/hfq211 [doi]
PST - ppublish
SO  - Eur J Heart Fail. 2011 Mar;13(3):278-83. doi: 10.1093/eurjhf/hfq211. Epub 2010 
      Dec 12.