PMID- 24626231 OWN - NLM STAT- MEDLINE DCOM- 20151214 LR - 20240322 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 9 IP - 3 DP - 2014 TI - Continuous cardiac troponin I release in Fabry disease. PG - e91757 LID - 10.1371/journal.pone.0091757 [doi] LID - e91757 AB - 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. CONCLUSION: 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. FAU - Feustel, Andreas AU - Feustel A AD - Department of Internal Medicine, Justus Liebig University, Giessen, Germany. FAU - Hahn, Andreas AU - Hahn A AD - Department of Child Neurology, Justus Liebig University, Giessen, Germany. FAU - Schneider, Christian AU - Schneider C AD - Department of Radiology, Justus Liebig University, Giessen, Germany. FAU - Sieweke, Nicole AU - Sieweke N AD - Department of Neurology, Justus Liebig University, Giessen, Germany. FAU - Franzen, Wolfgang AU - Franzen W AD - Department of Cardiology, Justus Liebig University, Giessen, Germany. FAU - Gunduz, Dursun AU - Gunduz D AD - Department of Cardiology, Justus Liebig University, Giessen, Germany. FAU - Rolfs, Arndt AU - Rolfs A AD - Albrecht-Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany. FAU - Tanislav, Christian AU - Tanislav C AD - Department of Neurology, Justus Liebig University, Giessen, Germany. LA - eng PT - Journal Article DEP - 20140313 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 0 (Troponin I) RN - AU0V1LM3JT (Gadolinium) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Coronary Angiography MH - Fabry Disease/*blood/*diagnostic imaging/pathology MH - Female MH - Gadolinium MH - Heart/*diagnostic imaging/physiopathology MH - Humans MH - Male MH - Middle Aged MH - Myocardium MH - Troponin I/*blood PMC - PMC3953535 COIS- Competing Interests: The authors have declared that no competing interests exist. EDAT- 2014/03/15 06:00 MHDA- 2015/12/15 06:00 PMCR- 2014/03/13 CRDT- 2014/03/15 06:00 PHST- 2013/12/17 00:00 [received] PHST- 2014/02/14 00:00 [accepted] PHST- 2014/03/15 06:00 [entrez] PHST- 2014/03/15 06:00 [pubmed] PHST- 2015/12/15 06:00 [medline] PHST- 2014/03/13 00:00 [pmc-release] AID - PONE-D-13-48710 [pii] AID - 10.1371/journal.pone.0091757 [doi] PST - epublish SO - PLoS One. 2014 Mar 13;9(3):e91757. doi: 10.1371/journal.pone.0091757. eCollection 2014.