Weili Cheng ¹ Mingqiang Ao ¹ Dinghu Xu ² Yuqing Zhang ¹ Qin Tao ^1*

• ¹ Department of Cardiology, Nanjing Jiangning Hospital, Nanjign, China
• ² Department of Radiology, The Affiliated Jiangning Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, consequently 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.595 T>C [p.Val199Met]) in exon 4 of the GLA gene was identified. 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 two years later.Subsequently, the patient underwent transcatheter aortic valve replacement. This case implies that FD should be considered as a potential cause in patients with unexplained left ventricular hypertrophy. Delayed initiation of ERT may compromise its efficacy.