Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Department of Emergency Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
J Emerg Med. 2020 Jul;59(1):e17-e20. doi: 10.1016/j.jemermed.2020.04.024. Epub 2020 May 21.
Primary carnitine deficiency (PCD) is a rare but potentially life-threatening genetic disorder if left untreated. Although some patients remain asymptomatic lifelong, a few patients present with hepatic encephalopathy, hypoglycemia, cardiomyopathy, dysrhythmia, and even sudden death.
A 25-year-old woman with PCD collapsed suddenly while eating lunch. Bystander cardiopulmonary resuscitation (CPR) was performed for 8 min, with automated external defibrillation once before admission. Upon arrival at our emergency department (ED), she was unresponsive without a pulse or spontaneous breathing. The initial heart rhythm on the electrocardiogram monitor was ventricular fibrillation (VF). The medical staff continued CPR with defibrillation for sustained VF. Return of spontaneous circulation (ROSC) was achieved after a total resuscitation time of 14 min, with defibrillation twice after cardiac arrest. The heart rhythm after ROSC was atrial fibrillation, with a rapid ventricular rate initially and subsequent progression to sinus tachycardia with diffuse ST segment depression and a prolonged QT interval. Her low carnitine level was consistent with her underlying disease. Cardiac magnetic resonance imaging and sonography for detection of cardiomyopathy showed no significant findings. With carnitine supplementation for a few days, her plasma carnitine level returned to 30 μM, with no recurrence of ventricular dysrhythmia. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: PCD is rare but could be life-threatening, and compiling detailed histories may help emergency physicians to determine the cause of sudden cardiac death after resuscitation. This information may be used to correct potential underlying problems and prevent recurrence of the condition after treatment.
原发性肉碱缺乏症（PCD）是一种罕见但如果不治疗可能危及生命的遗传疾病。尽管一些患者终生无症状，但少数患者会出现肝性脑病、低血糖、心肌病、心律失常，甚至猝死。
一名 25 岁女性在午餐时突然晕倒。旁观者对其进行了 8 分钟的心肺复苏（CPR），在入院前进行了一次自动体外除颤。患者到达我院急诊科（ED）时，无脉搏且无自主呼吸，处于无意识状态。心电图监测仪上的初始心律为心室颤动（VF）。医务人员继续进行除颤的 CPR 以维持 VF。经过 14 分钟的总复苏时间后，患者恢复了自主循环（ROSC），在心跳骤停后除颤两次。ROSC 后的心律为心房颤动，最初心室率较快，随后进展为窦性心动过速，弥漫性 ST 段压低和 QT 间期延长。她的肉碱水平低与潜在疾病相符。用于检测心肌病的心脏磁共振成像和超声检查未发现明显异常。经过几天的肉碱补充治疗，她的血浆肉碱水平恢复到 30μM，且未再出现室性心律失常。
为何急诊医生应该了解这一点？：PCD 较为罕见，但可能危及生命，详细的病史采集有助于急诊医生确定复苏后心脏性猝死的原因。这些信息可用于纠正潜在的问题，并防止治疗后病情复发。
