Hong Yoo Jin, Kim Young Jin
Taehan Yongsang Uihakhoe Chi. 2020 Mar;81(2):302-309. doi: 10.3348/jksr.2020.81.2.302. Epub 2020 Mar 31.
Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A. Cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. Hence, the diagnosis of cardiac involvement is crucial for evaluating patient prognosis. Cardiac MRI is the standard technique for measuring the function, volume, and mass of the ventricles. It is also useful for myocardial tissue characterizations. The evaluation of native myocardial T1 values can facilitate early diagnosis of cardiac involvement, while measurements of left ventricular myocardial mass can be used to monitor treatment outcomes, in patients with Fabry disease. Consequently, cardiac MRI can provide useful information for diagnosing, monitoring, and treating patients with Fabry disease.
法布里病是一种罕见的X连锁代谢紊乱疾病，其特征是由于α-半乳糖苷酶A缺乏，导致糖鞘脂在各个器官中蓄积。心脏受累相对常见；常观察到心肌炎症、左心室肥厚以及心肌细胞脂质异常沉积继发的心肌纤维化。因此，心脏受累的诊断对于评估患者预后至关重要。心脏磁共振成像（MRI）是测量心室功能、容积和质量的标准技术。它对心肌组织特征的评估也很有用。评估天然心肌T1值有助于法布里病患者心脏受累的早期诊断，而左心室心肌质量的测量可用于监测治疗效果。因此，心脏MRI可为法布里病患者的诊断、监测和治疗提供有用信息。
