Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy

Smedsrud MK, Chivulescu M, Forså MI, Castrini I, Aabel E, Rootwelt-Norberg C, Bogsrud MP, Edvardsen T, Hasselberg NE, Früh A, Haugaa KH

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable and progressive heart muscle disease characterized by high risk of ventricular tachyarrhythmias and sudden cardiac death, in addition to morphological abnormalities and eventually heart failure. Penetrance of ARVC disease has been described in adolescents, but is currently considered to be extremely rare under the age of ten years. However, children with ARVC are underrepresented in research publications and the clinical characteristics of paediatric ARVC are largely unknown.

In a single-centre cohort study, we included all consecutive ARVC probands and genotype-positive relatives old followed at the Department of Paediatric Cardiology, Oslo University Hospital, Rikshospitalet between 2007 and 2021. In this paediatric ARVC cohort, there was a high incidence of severe cardiac events and half of them occurred in children ≤12 years of age. The ARVC penetrance in genotype positive paediatric relatives was 18%. These findings of a high-malignant phenotype in childhood-onset ARVC indicate a need for ARVC family screening at younger age than currently recommended.

The study was publishes in the highly ranked European Heart Journal in early August 2022 and presented at the ESC Congress in Barcelona. In an Editorial in European Heart Journal in December professor Juan Pablo Kaski at Great Ormond Street Hospital in London use the results of this study as an argument for considering changing international clinical screening guidelines.