Arrhythmogenic cardiomyopathy in children manifested initially as asymptomatic ventricular arrhythmias in 100% of cases, with desmosomal mutations present in 66.7% of patients.
Observational (n=24)
No
Arrhythmogenic cardiomyopathy in children often presents initially with asymptomatic ventricular arrhythmias and is associated with a high prevalence of desmosomal mutations.
Aim . To investigate clinical manifestations, phenotypic variants, genetic features, and outcomes in children with arrhythmogenic cardiomyopathy (ACM). Methods . The study group consisted of 24 patients (< 18 years of age) with ACM, who were under observation from 2011 to 2024. The median age at ACM diagnosis was 13 years 12-15. The following data were analyzed: complaints and medical history, laboratory parameters (biochemical markers of inflammation and serum myocardial damage mar kers, NT-proBNP levels), electrocardiogram, Holter monitoring, echocardiography results, cardiac magnetic resonance imaging, selective coronary angiography, histological and molecular genetic studies. The median follow-up duration for ACM patients was 27 months 16.5-38. Results . All patients were unrelated probands. All children presented with asymptomatic ventricular arrhythmias (VA) as the initial manifestation of the disease, 23 (95.8%) patients had complaints: palpitations in 21 (87.5%) children, syncope in 14 (58.3%) children, heart failure symptoms in 12 (50.0%), and isolated chest pain in 4 (16.7%) patients. 5 (20.8%) children had a “hot” phase. Analysis of arrhythmic data revealed several features of ACM in childhood: VAs were polymorphic, daily VA density was less than 20% at the time of diagnosis, presence of late ventricular potentials in most patients, and several criteria from the «repolarization abnormalities» group had low informativeness. During follow-up, 9 (37.5%) children had the right-dominant ACM, 7 (29.9%) had ACM with left ventricle involvement, and 8 (33.3%) had biventricular form. Desmosomal mutations were found in 16 children (66.7%), non-desmosomal gene variants in 8 patients (33.3%). Conclusion . It has been shown that ACM can manifest at an early age and is associated with the development of arrhythmic events and/or severe heart failure. Increasing awareness among physicians about the early onset of ACM is crucial for timely treatment of heart failure, prevention of sudden cardiac death, and family screening.
Kofeynikova et al. (Fri,) conducted a observational in Arrhythmogenic cardiomyopathy (ACM) (n=24). Arrhythmogenic cardiomyopathy in children manifested initially as asymptomatic ventricular arrhythmias in 100% of cases, with desmosomal mutations present in 66.7% of patients.
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