BMJ paediatrics open · 2026
Paediatric inherited arrhythmia clinic: developing a new model of care.
СтатьяНазвание и аннотация: Перевод в очереди
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Robinson Karen M, Asakai Hiroko, Turner Christian, Lawley Claire, Dengler Lexi, Scarfe Gabbie, Morrish Ansley, Hayward Janette, Woo Ngai Lam, Smith Janine, Skinner Jonathan R
Аннотация
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.
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.