title: Persistent increase in cardiac troponin I in Fabry disease: a case report.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD) - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A. In FD an elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI) has been reported in case of clinical manifestation suggestive of myocardial ischemia. In diagnosing acute myocardial infarction cTNI is considered the most reliable parameter.
  
  
  METHODS
  In the referred case we present a 59 years old female patient with the diagnosis of FD presenting with persistently increased cTNI level (lowest value 0.46 ng/ml, highest value 0.69 ng/ml; normal range <0.05 ng/ml) over a period of 5 months lacking cardiac clinical signs. Since renal insufficiency did not explain the degree of cTNI elevation, this was interpreted as a result of cardiac involvement in FD. Cardiac MRI showed marked left ventricular hypertrophy and focal late Gadolinium enhancement.
  
  
  CONCLUSIONS
  Our case report demonstrates a persistent cTNI release in FD with cardiac involvement. Proving the persistence in a symptom free interval, it might be related to a direct damage of myocytes. In FD cTNI could serve as a beneficial long term parameter providing new perspectives for screening strategies.
authors.affiliation: Department of Neurology, Justus Liebig University, Giessen, Germany. Christian.Tanislav@neuro.med.uni-giessen.de
authors.forename: Christian
authors.initials: C
authors.lastname: Tanislav
authors.forename: Andreas
authors.initials: A
authors.lastname: Feustel
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Franzen
authors.forename: Oliver
authors.initials: O
authors.lastname: Wüsten
authors.forename: Christian
authors.initials: C
authors.lastname: Schneider
authors.forename: Frank
authors.initials: F
authors.lastname: Reichenberger
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Nicole
authors.initials: N
authors.lastname: Sieweke
mesh_terms: D015415:Biomarkers / Q000097:blood; D000795:Fabry Disease / Q000097:blood* / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000097:blood / Q000150:complications / Q000175:diagnosis; D008875:Middle Aged; D019210:Troponin I / Q000097:blood*
chemical_list: D015415:Biomarkers; D019210:Troponin I