%0 Journal Article %A Shuenn-Nan Chiu %A Jyh-Ming Jimmy Juang %A Wei-Chieh Tseng %A Wen-Pin Chen %A Ni-Chung Lee %A Mei-Hwan Wu %T Impact of genetic tests on survivors of paediatric sudden cardiac arrest %D 2022 %R 10.1136/archdischild-2020-321532 %J Archives of Disease in Childhood %P 41-46 %V 107 %N 1 %X Objective To retrospectively investigate the clinical spectrum, genetic profiles and outcomes of survivors of paediatric sudden cardiac arrest (SCA).Design and patients All 66 patients (aged 1–20 years), with unexpected SCA or syncope related to ventricular tachycardia (VT)/fibrillation and who survived to discharge from a tertiary centre, were enrolled from 1995 to 2018. Of these, 30 with underlying diseases prior to the events were excluded. Whole-exome sequencing targeting 384 channelopathy and cardiomyopathy-related genes (composite panel) was conducted to identify the possible genetic variants/mutations.Results A total of 36 patients were enrolled. Male adolescents predominated (66.7%), and the median age at onset was 13.3 years. Events occurred most often during exercise and daily activities. The yield rate of the genetic test was 84.6% (22/26); 14 had pathogenic variants; and 8 had likely pathogenic variants. The most common diagnoses were long QT in nine (25%), catecholaminergic polymorphic VT in six patients (16.7%), but other long QT and cardiomyopathy genes were also detected in eight patients (30.7%). The 10-year transplantation-free survival rate was 87.8% and was better for those who received genetic tests initially at the disease onset. An implantable cardioverter–defibrillator was implanted in 55.6% of the patients, with an appropriate shock rate of 61.1%. The defibrillator shock rate was lower for those who received composite panel initially.Conclusion Survivors of SCA in the paediatric population had favourable long-term outcomes aided by genetic test. A broad composite genetic panel brings extra diagnostic value in the investigation of ventricular fibrillation/sudden cardiac death.All data relevant to the study are included in the article or uploaded as supplementary information. %U https://adc.bmj.com/content/archdischild/107/1/41.full.pdf