Shi Xiaohe, Yang Fan, Wang Jing, Han Chao, Liu Liwen
Xijing Hypertrophic Cardiomyopathy Center, Department of Ultrasound, Xijing Hospital, Airforce Military Medical University, Xi'an, Shaanxi 710032, China.
Eur Heart J Case Rep. 2024 Dec 14;9(1):ytae660. doi: 10.1093/ehjcr/ytae660. eCollection 2025 Jan.
This is a case report of a patient with Fabry disease (FD). We successfully treated a patient with ventricular septal hypertrophy and left ventricular outflow tract (LVOT) obstruction caused by FD. We report our exclusive new surgery for patients with LVOT obstruction, percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) procedure™ (percutaneous intramyocardial septal radiofrequency ablation). The patient recovered well 7 months after operation, and no LVOT obstruction and arrhythmia occurred.
A 51-year-old woman with chest tightness after satiety for ∼10 years, aggravated for 2 months. The patient had a history of multiple syncope, syncope after activity or emotional excitement. Echocardiogram demonstrated ventricular septal thickness of 22 mm by the report. Genetic testing revealed gene mutation, which was consistent with FD (GLA: c.643A > C). Biochemical evaluation reported reduced serum α-galactosidase A activity and abnormal serum Lyso-GL-3 enzyme activity. The patient and her families decided to perform PIMSRA operation. After the operation, the septal thickness steadily decreased to 16 mm over the course of 7 months. However, the patient's symptoms improved significantly.
This is the first case of cardiac involvement caused by FD mimicking hypertrophic cardiomyopathy treated with the innovative PIMSRA procedure. Percutaneous intramyocardial septal radiofrequency ablation procedure can be one of the effective treatments to alleviate cardiac hypertrophy and left ventricular obstruction in FD.
本文是一例法布里病（FD）患者的病例报告。我们成功治疗了一名因FD导致室间隔肥厚和左心室流出道（LVOT）梗阻的患者。我们报告了针对LVOT梗阻患者的独家新型手术——经皮心肌间隔射频消融术（PIMSRA）（经皮心肌间隔射频消融）。患者术后7个月恢复良好，未出现LVOT梗阻和心律失常。
一名51岁女性，饱餐后胸闷约10年，近2个月加重。患者有多次晕厥病史，活动或情绪激动后晕厥。超声心动图报告显示室间隔厚度为22 mm。基因检测发现基因突变，与FD（GLA：c.643A > C）一致。生化评估报告显示血清α-半乳糖苷酶A活性降低，血清溶菌酶GL-3酶活性异常。患者及其家属决定进行PIMSRA手术。术后，在7个月的时间里，室间隔厚度稳步降至16 mm。然而，患者的症状明显改善。
这是首例采用创新的PIMSRA手术治疗的由FD引起的类似肥厚型心肌病的心脏受累病例。经皮心肌间隔射频消融术可以是缓解FD患者心脏肥厚和左心室梗阻的有效治疗方法之一。
