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Impact of genetic tests on survivors of paediatric sudden cardiac arrest
  1. Shuenn-Nan Chiu1,
  2. Jyh-Ming Jimmy Juang2,
  3. Wei-Chieh Tseng3,
  4. Wen-Pin Chen4,
  5. Ni-Chung Lee5,
  6. Mei-Hwan Wu1
  1. 1Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan
  2. 2Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan
  3. 3Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
  4. 4Institute of Pharmacology, National Taiwan University College of Medicine, Taipei, Taiwan
  5. 5Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
  1. Correspondence to Dr Mei-Hwan Wu, Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan; wumh{at}ntu.edu.tw

Abstract

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.

  • cardiology
  • genetics

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Footnotes

  • S-NC and J-MJJ contributed equally.

  • Contributors S-NC and J-MJJ conceptualised and designed the study and data collection, drafted the initial manuscript, and reviewed and revised the manuscript. W-CT, N-CL and W-PC designed the data collection instruments, collected data, carried out the initial analyses, and reviewed and revised the manuscript. M-HW conceptualised and designed the study, coordinated and supervised data collection, and critically reviewed and revised the the manuscript. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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