Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan.
Division of Cardiology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan.
J Cardiol. 2020 Jan;75(1):27-33. doi: 10.1016/j.jjcc.2019.09.002. Epub 2019 Oct 15.
Fabry disease is one of the causes of left ventricular hypertrophy (LVH) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy. Late gadolinium enhancement (LGE) in cardiac magnetic resonance (CMR) can identify myocardial fibrosis and be used for the stratification in LVH. However, the details of the prevalence and characteristics of LGE in Japanese Fabry patients have not been reported.
We evaluated myocardial involvement in 26 Fabry patients (10 males, 16 females) using gadolinium-enhanced CMR. LGE areas were analyzed using the previously reported scoring method. Echocardiography was also performed to evaluate the left ventricular function and left ventricular mass.
LGE on CMR images was positive in 5 out of 26 patients, and all patients with LGE-positive findings suffered from LVH (2 out of 5 male patients and 3 out of 4 female patients with LVH on echocardiography). LGE was specifically localized at the mid-wall in the infero-lateral area of the left ventricle. LGE-positive patients seemed to be older, and tended to have a larger left ventricular mass index and higher B-type natriuretic peptide level than LGE-negative patients.
These results revealed that specific localization of LGE was present in Fabry patients.
法布瑞病是左心室肥厚（LVH）的原因之一，可以通过酶替代疗法或药理学伴侣治疗。心脏磁共振（CMR）中的钆延迟增强（LGE）可以识别心肌纤维化，并用于 LVH 的分层。然而，日本法布瑞病患者中 LGE 的患病率和特征的详细信息尚未报道。
我们使用钆增强 CMR 评估了 26 例法布瑞病患者（10 名男性，16 名女性）的心肌受累情况。使用先前报道的评分方法分析 LGE 区域。还进行了超声心动图检查，以评估左心室功能和左心室质量。
26 例患者中有 5 例 CMR 图像上 LGE 阳性，所有 LGE 阳性发现的患者均患有 LVH（超声心动图显示 5 例男性患者中有 2 例和 4 例女性患者中有 3 例 LVH）。LGE 特异性定位于左心室下外侧区域的中壁。LGE 阳性患者似乎年龄较大，左心室质量指数和 B 型利钠肽水平均高于 LGE 阴性患者。
这些结果表明法布瑞病患者存在特定部位的 LGE。
