title: Continuous cardiac troponin I release in Fabry disease.
abstract: BACKGROUND
  Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. The aims of this study were to determine the frequency of cardiac troponin I (cTNI) elevation, a sensitive parameter reflecting myocardial damage, in a smaller cohort of FD-patients, and to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in FD.
  
  
  METHODS
  cTNI values were determined at least twice per year in 14 FD-patients (6 males and 8 females) regularly followed-up in our centre. The data were related to other parameters of heart function including cardiac magnetic resonance imaging (cMRI).
  
  
  RESULTS
  Three patients (21%) without specific vascular risk factors other than FD had persistent cTNI-elevations (range 0.05-0.71 ng/ml, normal: <0.01). cMRI disclosed late gadolinium enhancement (LGE) in all three individuals with cTNI values ≥0.01, while none of the 11 patients with cTNI <0.01 showed a pathological enhancement (p<0.01). Two subjects with increased cTNI-values underwent coronary angiography, excluding relevant stenoses. A myocardial biopsy performed in one during this procedure demonstrated substantial accumulation of globotriaosylceramide (Gb3) in cardiomyocytes.
  
  
  CONCLUSIONS
  Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD. The high accordance with LGE, reflecting cardiac dysfunction, suggests that cTNI-elevation can be a useful laboratory parameter for assessing myocardial damage in FD.
authors.affiliation: Department of Internal Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Feustel
authors.affiliation: Department of Child Neurology, Justus Liebig University, Giessen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.affiliation: Department of Radiology, Justus Liebig University, Giessen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Schneider
authors.affiliation: Department of Neurology, Justus Liebig University, Giessen, Germany.
authors.forename: Nicole
authors.initials: N
authors.lastname: Sieweke
authors.affiliation: Department of Cardiology, Justus Liebig University, Giessen, Germany.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Franzen
authors.affiliation: Department of Cardiology, Justus Liebig University, Giessen, Germany.
authors.forename: Dursun
authors.initials: D
authors.lastname: Gündüz
authors.affiliation: Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.affiliation: Department of Neurology, Justus Liebig University, Giessen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Tanislav
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017023:Coronary Angiography; D000795:Fabry Disease / Q000097:blood* / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D005682:Gadolinium; D006321:Heart / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009206:Myocardium; D019210:Troponin I / Q000097:blood*
chemical_list: D019210:Troponin I; D005682:Gadolinium