{
  "abstract": "Objective To describe the development and utilisation of a paediatric inherited arrhythmia clinic (IAC) from 2014 to 2024, including service developments following the introduction of cardiac genetic coordinators (CGC).Design Retrospective cohort study.Setting The IAC at Children’s Hospital Westmead, New South Wales, Australia (approximately 8 million people).Patients Children (aged 0–18 years) referred to the IAC.Interventions Clinical and genetic data were extracted and analysed.Main outcome measures Description of the development and cohort of the clinic.Results A monthly clinic preceded by a team meeting (multidisciplinary team) led by a paediatric cardiologist and clinical geneticist was established. Attendees included a genetic counsellor, senior arrhythmia nurse and clinical psychologist.A total of 301 individuals aged 0–18 years were seen over 11 years: 32 in 2014 and 128 in 2024. 85 probands presented with cardiac arrest (37; 44%), syncope (23; 27%) and others (25; 29%). The most common diagnoses were Long QT syndrome 33 (38%), catecholaminergic polymorphic ventricular tachycardia 24 (28%) and Brugada syndrome 6 (7%). 226/301 children had genetic testing; pathogenic/likely pathogenic variants were found in 173/226 (77%), including 121 family members. The most common genes implicated were KCNQ1 (67), KCNH2 (39), SCN5A (28) and RyR2 (15).Dedicated allied health/nursing CGCs appointed in 2023 improved the collation of clinical/family data (particularly new referrals), links to adult cardiology, forensic and regional genetic and paediatric services.Conclusions The multidisciplinary IAC achieves the phenotyping, genotyping and holistic care of large numbers of children, mostly with cardiac ion channelopathies. Dedicated coordinators provided an incremental improvement to the service.",
  "authors": [
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia"
      ],
      "name": "Karen M Robinson"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia",
        "Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Hiroko Asakai"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia"
      ],
      "name": "Christian Turner"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia",
        "Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Claire Lawley"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia"
      ],
      "name": "Lexi Dengler"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia"
      ],
      "name": "Gabbie Scarfe"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, The Children’s Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Ansley Morrish"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, The Children’s Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Janette Hayward"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia",
        "Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia"
      ],
      "name": "Ngai Lam Woo"
    },
    {
      "affiliations": [
        "Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia",
        "Department of Clinical Genetics, The Children’s Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Janine Smith"
    },
    {
      "affiliations": [
        "The Heart Centre for Children Westmead, The Sydney Children’s Hospitals Network, Sydney, New South Wales, Australia",
        "Faculty of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia"
      ],
      "name": "Jonathan R Skinner"
    }
  ],
  "title": "Paediatric inherited arrhythmia clinic: developing a new model of care",
  "uid": "de149243-a20e-56cc-a1e6-b9b61a6d5703"
}