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一名16岁青少年的儿茶酚胺能多形性室性心动过速:病例报告

Catecholaminergic Polymorphic Ventricular Tachycardia in a 16-year-old: Case Report.

作者信息

Wahhab John, Oganesyan Ani, Korrapati Krishi

机构信息

Chicago Medical School at Rosalind Franklin University of Medicine and Science, North Chicago, Illinois.

出版信息

Clin Pract Cases Emerg Med. 2025 May;9(2):220-222. doi: 10.5811/cpcem.34847.

Abstract

INTRODUCTION

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, inheritable cardiac disorder associated with stress- or exercise-induced syncope or cardiac arrest in children and young adults. Diagnosis of CPVT is often missed or delayed due to variable presentation and normal cardiac imaging and electrocardiogram results, with about 40% of patients dying within 10 years of diagnosis. This case underscores the importance of cross-departmental communication when managing complex pediatric cases, especially when using an interpreter.

CASE REPORT

A 16-year-old male presented to the hospital with cardiac arrest in ventricular fibrillation following collapse despite a history of treatment with flecainide and nadolol. He was resuscitated, stabilized with antiarrhythmic drips, received an implantable cardioverter defibrillator, and was discharged neurologically intact nine days later. It is vital for physicians to consider CPVT in young patients with syncope to prevent errors in diagnosis of this highly fatal disease.

CONCLUSION

Catecholaminergic polymorphic ventricular tachycardia is a rare genetic disease with significant morbidity and mortality. Treatment decisions for acute CPVT often occur without prior knowledge of the disease; so, in patients diagnosed with CPVT, physicians should implement appropriate therapeutic options to prevent future cardiac events. For patients who remain symptomatic despite compliance with beta blockers and/or other antiarrhythmic therapy, interventions such as placement of an implantable cardioverter defibrillator or sympathetic denervation may be necessary to prevent life-threatening arrhythmias. This case also underscores the importance of obtaining a detailed family history and coordinating care with other physicians in cases where history is limited.

摘要

引言

儿茶酚胺能多形性室性心动过速(CPVT)是一种罕见的遗传性心脏疾病,与儿童和年轻人因压力或运动诱发的晕厥或心脏骤停有关。由于临床表现多样且心脏影像学和心电图结果正常,CPVT的诊断常常被漏诊或延误,约40%的患者在确诊后10年内死亡。该病例强调了在处理复杂儿科病例时跨部门沟通的重要性,尤其是在使用口译员的情况下。

病例报告

一名16岁男性因晕厥后心脏骤停呈室颤状态入院,尽管此前接受过氟卡尼和纳多洛尔治疗。他被复苏,通过抗心律失常药物静脉滴注稳定病情,植入了植入式心脏复律除颤器,九天后神经功能完好出院。对于晕厥的年轻患者,医生必须考虑CPVT以防止误诊这种高致命性疾病。

结论

儿茶酚胺能多形性室性心动过速是一种罕见的遗传性疾病,具有显著的发病率和死亡率。急性CPVT的治疗决策往往在对该疾病缺乏预先了解的情况下做出;因此,对于确诊为CPVT的患者,医生应实施适当的治疗方案以预防未来的心脏事件。对于尽管依从β受体阻滞剂和/或其他抗心律失常治疗仍有症状的患者,可能需要采取植入式心脏复律除颤器置入或交感神经切除术等干预措施以预防危及生命的心律失常。该病例还强调了在病史有限的情况下获取详细家族史并与其他医生协调护理的重要性。

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