Cheng Weili, Ao Mingqiang, Xu Dinghu, Zhang Yuqing, Tao Qin
Department of Cardiology, The Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing, China.
Department of Radiology, The Affiliated Jiangning Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Front Cardiovasc Med. 2024 Nov 22;11:1479374. doi: 10.3389/fcvm.2024.1479374. eCollection 2024.
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction. The clinical manifestations of FD are diverse and non-specific. In the present study, we report a case initially treated as obstructive hypertrophic cardiomyopathy for several years, which was finally identified as FD through whole-exome sequencing (WES). The patient, diagnosed with obstructive hypertrophic cardiomyopathy, underwent left ventricular outflow tract surgery before visiting our hospital. WES was proposed by our cardiomyopathy center and, unexpectedly, a mutation [c.595T>C (p.Val199Met)] in exon 4 of the GLA gene was identified. A subsequent analysis of plasma α-galactosidase and globotriaosylsphingosine levels confirmed the diagnosis of FD. Although enzyme replacement therapy (ERT) was initiated immediately after diagnosis, the patient experienced aortic valve damage and left heart enlargement 2 years later. Subsequently, the patient underwent transcatheter aortic valve replacement. This case implies that FD should be considered a potential cause in patients with unexplained left ventricular hypertrophy. Delayed initiation of ERT may compromise its efficacy.
法布里病（FD）是一种罕见的X连锁遗传性溶酶体贮积症。代谢底物的异常蓄积会诱导细胞发生炎症和纤维化，进而导致器官功能障碍。FD的临床表现多样且无特异性。在本研究中，我们报告了一例最初被误诊为梗阻性肥厚型心肌病数年的病例，最终通过全外显子组测序（WES）确诊为FD。该患者被诊断为梗阻性肥厚型心肌病，在来我院就诊前接受了左心室流出道手术。我院心肌病中心建议进行WES，结果意外地在GLA基因第4外显子中发现了一个突变[c.595T>C（p.Val199Met）]。随后对血浆α-半乳糖苷酶和球三糖神经酰胺水平的分析证实了FD的诊断。尽管在确诊后立即开始了酶替代疗法（ERT），但患者在2年后出现了主动脉瓣损害和左心扩大。随后，该患者接受了经导管主动脉瓣置换术。该病例提示，对于不明原因左心室肥厚的患者，应考虑FD为潜在病因。ERT启动延迟可能会影响其疗效。
