Clinical challenges in the management of catecholaminergic polymorphic ventricular tachycardia in children / 中华儿科杂志

ABSTRACT

Objective@#Catecholaminergic polymorphic ventricular tachycardia (CPVT) accounts for up to 10%-15% sudden cardiac death (SCD) in the children and young population. This study aimed to assess the current situation and challenges in CPVT clinical diagnosis.@*Method@#A retrospective review included 11 children (7 male patients) at the First Hospital of Tsinghua University clinically diagnosed with CPVT from June 2014 to July 2017. Each patient was evaluated with detailed history, physical examination, resting 12-lead electrocardiogram(ECG), 24-h Holter, exercise stress test, Doppler echocardiography and genetic test.@*Result@#During physical activity and/or emotional stress, ten children presented with recurrent syncope and one child presented with palpitation and chest distress. The mean age of symptom onset was 8.4 (4.0-13.7) years with a delayed diagnosis of 2.4 (0.04-5.00) years. Two children had a familial history of syncope or sudden death. Nine children were initially misdiagnosed as complex arrhythmic conditions (n=4), syncope of unknown origin (n=3), and drug-resistant epilepsy (n=2) treated with antiepileptic medication for several years. Bidirectional VT and (or) polymorphic VT were detected using Holter recording or exercise test ECG in all patients. Genetic test revealed CPVT-associated pathologic or possible pathologic mutations in nine patients. All patients were treated with beta-blockers. Six patients were asymptomatic, four patients reported infrequent syncope, and one sudden death occurred during a mean follow-up of 0.97 years.@*Conclusion@#CPVT mainly occurs in children and adolescents with recurrent syncope during physical activities and/or emotional stress. Early diagnosis of CPVT remains challenging due to delayed diagnosis or misdiagnosis. Detailed clinical history and exercise stress test improve the early diagnosis and intervention for CPVT patients.