Impact of genetic tests on survivors of paediatric sudden cardiac arrest.

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.

• Authors: Shuenn-Nan Chiu, Jyh-Ming Jimmy Juang, Wei-Chieh Tseng, Wen-Pin Chen, Ni-Chung Lee, Mei-Hwan Wu
• Journal: Archives of disease in childhood (Arch Dis Child) Vol. 107 Issue 1 Pg. 41-46 (01 2022) ISSN: 1468-2044 [Electronic] England
• PMID: 34127479 (Publication Type: Journal Article)
• Copyright: © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

Topics

• Adolescent
• Cardiomyopathies (genetics)
• Channelopathies (genetics)
• Child
• Child, Preschool
• Death, Sudden, Cardiac
• Defibrillators, Implantable
• Female
• Genetic Testing (methods)
• Heart Arrest (genetics, mortality, therapy)
• Humans
• Infant
• Long QT Syndrome (genetics)
• Male
• Retrospective Studies
• Survival Rate
• Survivors
• Tachycardia, Ventricular (genetics)
• Young Adult