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Paediatric inherited arrhythmia clinic: developing a new model of care

Karen M Robinson1, Hiroko Asakai2,3, Christian Turner2

  • 1The Heart Centre for Children Westmead, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia Karen.Robinson2@health.nsw.gov.au jonathan.skinner@health.nsw.gov.au.

BMJ Paediatrics Open
|March 9, 2026
PubMed

Insights

A paediatric inherited arrhythmia clinic (IAC) successfully provided holistic care for over 300 children with cardiac ion channelopathies. The introduction of cardiac genetic coordinators (CGCs) enhanced data management and service integration.

Area of Science:

  • Cardiology
  • Genetics
  • Paediatrics

Background:

  • Inherited arrhythmia syndromes are a significant cause of sudden cardiac death in children.
  • Specialized multidisciplinary clinics are essential for comprehensive management.
  • The development of dedicated paediatric inherited arrhythmia clinics (IACs) is crucial for early diagnosis and treatment.

Purpose of the Study:

  • To describe the 10-year development and utilization of a paediatric inherited arrhythmia clinic (IAC).
  • To evaluate service improvements following the introduction of cardiac genetic coordinators (CGCs).
  • To analyze the clinical and genetic characteristics of children with inherited arrhythmias.

Main Methods:

  • Retrospective cohort study of children (0-18 years) referred to the IAC at Children's Hospital Westmead.
  • Analysis of clinical and genetic data, including diagnoses, genetic testing results, and family history.
  • Description of clinic structure, multidisciplinary team composition, and the impact of CGCs.

Main Results:

  • 301 children were seen over 11 years, with a significant increase in referrals by 2024.
  • Common diagnoses included Long QT syndrome (38%), catecholaminergic polymorphic ventricular tachycardia (28%), and Brugada syndrome (7%).
  • Genetic testing revealed pathogenic variants in 77% of cases, with KCNQ1, KCNH2, SCN5A, and RyR2 being the most implicated genes. CGCs improved data collation and service links.

Conclusions:

  • The multidisciplinary IAC effectively provides phenotyping, genotyping, and holistic care for children with cardiac ion channelopathies.
  • Dedicated CGCs significantly improved service efficiency and data management.
  • The clinic model demonstrates successful management of paediatric inherited arrhythmias.
Abstract

Keywords:
CardiologyData CollectionGenetics

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