Department of Neurology, Justus Liebig University, Giessen, Germany.
BMC Cardiovasc Disord. 2011 Jan 31;11:6. doi: 10.1186/1471-2261-11-6.
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.
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.
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.
肥厚型心肌病是法布里病（FD）的常见表现 - 一种由α-半乳糖苷酶 A 活性降低引起的 X 连锁溶酶体贮积症。在 FD 中，当出现提示心肌缺血的临床表现时，已有报道特定的心脏生物标志物（如心肌肌钙蛋白 I（cTNI））升高。在诊断急性心肌梗死时，cTNI 被认为是最可靠的参数。
在本病例中，我们介绍了一位 59 岁女性患者，诊断为 FD，表现为 cTNI 水平持续升高（最低值 0.46ng/ml，最高值 0.69ng/ml；正常值<0.05ng/ml），持续时间为 5 个月，且无心脏临床体征。由于肾功能不全不能解释 cTNI 升高的程度，因此这被解释为 FD 心脏受累的结果。心脏 MRI 显示左心室肥厚明显，并出现局灶性晚期钆增强。
我们的病例报告表明 FD 患者存在持续性 cTNI 释放，并伴有心脏受累。在无症状间隔期内证明其持续存在，可能与肌细胞的直接损伤有关。在 FD 中，cTNI 可作为有益的长期参数，为筛查策略提供新的视角。
