Kodama Kenji, Ozawa Tomoya, Dochi Kenichi, Ueno Yoshiki
Department of Cardiology, Nagahama Red Cross Hospital, 14-7, Miyamae-cho, Nagahama-shi, Shiga 526-0053, Japan.
Department of Cardiovascular Medicine, Shiga University of Medical Science Hospital, Tsukinowa, Seta-cho, Otsu-shi, Shiga 520-2134, Japan.
Eur Heart J Case Rep. 2019 Oct 21;3(4):1-5. doi: 10.1093/ehjcr/ytz192. eCollection 2019 Dec.
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency in alpha-galactosidase A. The major causes of death due to cardiac complications include life-threatening arrhythmias. In addition, life-threatening arrhythmias may be related to myocardial fibrosis assessed by late gadolinium enhancement (LGE).
A 43-year-old man with sinus bradycardia and left ventricular hypertrophy was referred to our cardiology department. Family history includes unexplained hypertrophy and sick sinus syndrome in mother. Additionally, his plasma alpha-galactosidase A activity was low. He was subsequently diagnosed with FD. Enzyme replacement therapy using 1.0 mg/kg agalsidase-β was initiated. During the fifth administration, he developed ventricular fibrillation (VF). Electrocardiography conducted immediately before VF revealed ST elevation in the inferior leads with reciprocated ST depression. Cardiac magnetic resonance imaging showed no LGE in the myocardium. Coronary angiography showed no organic stenosis; moreover, coronary spasms were induced by an intracoronary acetylcholine injection. Ventricular fibrillation was not observed as the patient received calcium antagonists.
This report suggests that vasospastic angina pectoris is associated with life-threatening arrhythmias in patient with FD without LGE.
法布里病（FD）是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A缺乏引起。心脏并发症导致的主要死亡原因包括危及生命的心律失常。此外，危及生命的心律失常可能与通过延迟钆增强（LGE）评估的心肌纤维化有关。
一名43岁男性，有窦性心动过缓和左心室肥厚，被转诊至我们的心脏病科。家族史包括母亲患有不明原因的肥厚和病态窦房结综合征。此外，他的血浆α-半乳糖苷酶A活性较低。随后他被诊断为FD。开始使用1.0mg/kg的阿加糖酶β进行酶替代治疗。在第五次给药期间，他发生了心室颤动（VF）。VF发作前立即进行的心电图显示下壁导联ST段抬高并伴有ST段压低。心脏磁共振成像显示心肌无LGE。冠状动脉造影显示无器质性狭窄；此外，冠状动脉内注射乙酰胆碱诱发了冠状动脉痉挛。患者接受钙拮抗剂治疗后未观察到心室颤动。
本报告提示，无LGE的FD患者中，血管痉挛性心绞痛与危及生命的心律失常有关。
