Feustel Andreas, Hahn Andreas, Schneider Christian, Sieweke Nicole, Franzen Wolfgang, Gündüz Dursun, Rolfs Arndt, Tanislav Christian
Department of Internal Medicine, Justus Liebig University, Giessen, Germany.
Department of Child Neurology, Justus Liebig University, Giessen, Germany.
PLoS One. 2014 Mar 13;9(3):e91757. doi: 10.1371/journal.pone.0091757. eCollection 2014.
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.
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).
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.
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.
法布里病（FD）是一种罕见的溶酶体贮积症，也会影响心脏。本研究的目的是确定一小群FD患者中心肌肌钙蛋白I（cTNI）升高的频率（cTNI是反映心肌损伤的敏感参数），并分析持续的cTNI是否可作为评估FD患者心脏功能障碍的合适生物标志物。
在我们中心定期随访的14例FD患者（6例男性和8例女性）中，每年至少测定两次cTNI值。这些数据与心脏功能的其他参数相关，包括心脏磁共振成像（cMRI）。
除FD外无特定血管危险因素的3例患者（21%）cTNI持续升高（范围0.05 - 0.71 ng/ml，正常：<0.01）。cMRI显示，cTNI值≥0.01的所有3例患者均有延迟钆增强（LGE），而cTNI<0.01的11例患者均未显示病理性增强（p<0.01）。2例cTNI值升高的患者接受了冠状动脉造影，排除了相关狭窄。在此过程中，1例患者进行了心肌活检，结果显示心肌细胞中大量积聚了Globotriaosylceramide（Gb3）。
相当一部分FD患者似乎存在持续的cTNI升高。cTNI升高与反映心脏功能障碍的LGE高度一致，表明cTNI升高可作为评估FD患者心肌损伤的有用实验室参数。
