■Takotsubo综合征(TS)定义为短暂性左心室功能障碍,这通常与情绪或身体紧张的事件有关。我们描述了一名患有丙酮酸羧化酶缺乏症(PCD)的女士的TS病例。丙酮酸羧化酶缺乏症是罕见的疾病,大多数受影响的人表现出未能茁壮成长的迹象,反复发作,和代谢性酸中毒.据我们所知,这是PCD患者中第一个有记录的TS病例。
这位28岁的女性在强直阵挛性癫痫发作后出现在急诊科。在演讲前4天,她一直咳嗽和发热。在第2天,她出现了伴有心动过速和低血压的腹痛,和肌钙蛋白升高(791ng/L)。超声心动图显示左心室收缩功能严重受损,区域壁运动异常(RWMA),视觉估计的左心室射血分数为25-30%。入院后八天,她的临床状态显着改善,肌钙蛋白减少至60ng/L第9天的重复超声心动图显示心脏功能完全消退,没有RWMA。在此之后,她第二天出院,诊断为TS。
■这是一例PCD患者的TS病例报告。在这种情况下,TS的多种病因,如情绪和身体压力,癫痫发作,并考虑急性感染。该病例还强调,TS应该是存在心脏症状的患者的重要鉴别诊断。
UNASSIGNED: Takotsubo syndrome (TS) is defined as transient left ventricular dysfunction, which is often related to an emotional or physically stressful event. We describe a
case of TS in a lady with pyruvate
carboxylase deficiency (PCD). Pyruvate
carboxylase deficiency is rare condition with the majority of those affected demonstrating signs of failure to thrive, recurrent seizures, and metabolic acidosis. To our knowledge, this is the first documented
case of TS in an individual with PCD.
UNASSIGNED: This 28-year-old female presented to the emergency department after a tonic-clonic seizure. For 4 days prior to the presentation, she had been suffering from cough and pyrexia. On Day 2, she developed abdominal pain associated with tachycardia and hypotension, and an elevated troponin (791 ng/L). The echocardiogram showed a severely impaired left ventricular systolic function, regional wall motion abnormalities (RWMAs), and a visually estimated left ventricular ejection fraction of 25-30%. Eight days following admission her clinical state significantly improved, with a reduction troponin to 60 ng/L. A repeat echocardiogram on Day 9 showed complete resolution of cardiac function with no RWMAs. Following this, she was discharged from hospital the next day with a diagnosis of TS.
UNASSIGNED: This is the first
case report of TS in a patient with PCD. In this case, multiple aetiologies of TS such as emotional and physical stress, seizures, and acute infection were considered. This
case also highlights that TS should be an important differential diagnosis in patients presenting with cardiac symptoms.