title: Myocardial lipid content in Fabry disease: a combined1H-MR spectroscopy and MR imaging study at 3 Tesla.
abstract: Fabry disease is characterized by a progressive deposition of sphingolipids in different organ systems, whereby cardiac involvement leads to death. We hypothesize that lysosomal storage of sphingolipids in the heart as occurring in Fabry disease does not reflect in higher cardiac lipid concentrations detectable by1H magnetic resonance spectroscopy (MRS) at 3 Tesla.
  
  
  
  Myocardial lipid content was quantified in vivo by1H-MRS in 30 patients (12 male, 18 female; 18 patients treated with enzyme replacement therapy) with genetically proven Fabry disease and in 30 healthy controls. The study protocol combined1H-MRS with cardiac cine imaging and LGE MRI in a single examination.
  
  
  
  Myocardial lipid content was not significantly elevated in Fabry disease (p = 0.225). Left ventricular (LV) mass was significantly higher in patients suffering from Fabry disease compared to controls (p = 0.019). Comparison of patients without signs of myocardial fibrosis in MRI (LGE negative; n = 12) to patients with signs of fibrosis (LGE positive; n = 18) revealed similar myocardial lipid content in both groups (p > 0.05), while the latter showed a trend towards elevated LV mass (p = 0.076).
  
  
  
  This study demonstrates the potential of lipid metabolic investigation embedded in a comprehensive examination of cardiac morphology and function in Fabry disease. There was no evidence that lysosomal storage of sphingolipids influences cardiac lipid content as measured by1H-MRS. Finally, the authors share the opinion that a comprehensive cardiac examination including three subsections (LGE;1H-MRS; T1mapping), could hold the highest potential for the final assessment of early and late myocardial changes in Fabry disease.
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany. Petritsch_B@ukw.de.
authors: B
authors: 0000-0002-9909-1592
authors: B
authors: Petritsch
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.|University of Würzburg, Comprehensive Heart Failure Center, 97080, Würzburg, Germany.
authors: H
authors: H
authors: Köstler
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: A M
authors: AM
authors: Weng
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: M
authors: M
authors: Horn
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: T
authors: T
authors: Gassenmaier
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: A S
authors: AS
authors: Kunz
authors: University of Würzburg, Comprehensive Heart Failure Center, 97080, Würzburg, Germany.|Department of Internal Medicine II/Cardiology, Katharinen-Hospital Unna, Obere Husemannstr.2, 59423, Unna, Germany.
authors: F
authors: F
authors: Weidemann
authors: Department of Internal Medicine I, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: C
authors: C
authors: Wanner
authors: Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080, Würzburg, Germany.
authors: T A
authors: TA
authors: Bley
authors: Department of Diagnostic and Interventional Radiology, University Hospital Ulm, Albert-Einstein-Allee 23, 89081, Ulm, Germany.
authors: M
authors: M
authors: Beer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism*; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology; D013107:Sphingolipids / Q000378:metabolism*; D013997:Time Factors; D016277:Ventricular Function, Left; D055815:Young Adult
chemical_list: D013107:Sphingolipids
keywords: Late gadolinium enhancement; Lysosomal storage disease; Magnetic resonance spectroscopy; Morbus Fabry; Myocardial lipid content; Rare diseases