Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia

BackgroundsCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagnosis and misdiagnosis remain a matter of concern due to its rarity and insufficient recognition of this disorder, particularly in developing countries like China.Aims and methodsWe reported six catecholaminergic polymorphic ventricular tachycardia (CPVT) children diagnosed in our center along with a comprehensive review of Chinese pediatric CPVT patients reported in domestic and overseas literature between January 2013 and December 2021 to provide an essential reference for physicians to deepen their understanding of pediatric CPVT.ResultsA total of 95 children with CPVT, including our six patients from 21 medical centers were identified. The median age of symptom onset is 8.7 +/- 3.0 years. Diagnosis occurred at a median age of 12.9 +/- 6.8 years with a delay of 4.3 +/- 6.6 years. Selective beta-blockers (Metoprolol and Bisoprolol) were prescribed for 38 patients (56.7%) and 29 (43.3%) patients received non-selective beta-blocker (Propranolol and Nadolol) treatment. Six patients accepted LCSD and seven received ICD implantation at the subsequent therapy. A total of 13 patients died during the disease course. Of the 67 patients with positive gene test results, variants in RYR2 were 47 (70.1%), CASQ2 were 11 (16.4%), and RYR2 accompanied SCN5A were 7 (10.4%). Patients with CASQ2 gene mutations presented with younger symptom onset age, higher positive family history rate and better prognosis than those with RYR2 mutations.ConclusionChinese pediatric patients with CPVT had a poorer prognosis than other cohorts, probably due to delayed/missed diagnosis, non-standard usage of beta-blockers, unavailability of flecainide, and a lower rate of LCSD and ICD implantation.

Automated summary

This study identified a total of 95 Chinese pediatric patients with CPVT, highlighting delayed diagnosis, non-standard usage of beta-blockers, and availability issues of certain medications as contributing factors to a poorer prognosis compared to other cohorts. Variants in RYR2 and CASQ2 genes were common among patients, with different mutation types showing varied clinical manifestations and outcomes.