Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan; Department of Cardiovascular Medicine, Graduate School of Medical Science, Kumamoto University, Kumamoto City, Japan.
Nakayama Cardiovascular Clinic, Amakusa City, Japan.
Am J Cardiol. 2023 Apr 1;192:155-159. doi: 10.1016/j.amjcard.2023.01.036. Epub 2023 Feb 18.
A 39-year-old male was referred for treatment of hypertension. He had been treated for argininosuccinic aciduria since 8 months of age. Therapeutic drugs, including l-arginine, sodium phenylbutyrate, and antiepileptic drugs, had been prescribed. A detailed medical history revealed that he complained of chest discomfort under psychologic stress. A 12-lead electrocardiogram showed abnormal q waves in lead III and aVF. Transthoracic echocardiography showed hypokinesia of the left ventricular posterior wall. The patient was diagnosed with myocardial infarction because of coronary vasospastic angina by intracoronary acetylcholine provocation test. Argininosuccinic aciduria is a genetic disorder of the urea cycle caused by a deficiency of argininosuccinate lyase. Reduction of the enzymatic activity leads to a decrease in nitric oxide production, even if arginine is supplemented. Our case report supports the significance of endothelial function in the pathogenesis of coronary vasospasm.
一位 39 岁男性因高血压就诊。他自 8 个月大时就开始接受精氨琥珀酸尿症的治疗。已开具包括 L-精氨酸、苯丁酸钠和抗癫痫药物在内的治疗药物。详细的病史显示,他在心理压力下会感到胸痛。12 导联心电图显示 III 导联和 aVF 导联异常 q 波。经胸超声心动图显示左心室后壁运动障碍。由于冠状动脉乙酰胆碱激发试验显示患者存在冠状动脉痉挛性心绞痛,因此被诊断为心肌梗死。精氨琥珀酸尿症是一种尿素循环的遗传疾病,由精氨琥珀酸裂解酶缺乏引起。即使补充精氨酸,酶活性的降低也会导致一氧化氮生成减少。我们的病例报告支持内皮功能在冠状动脉痉挛发病机制中的重要性。