Сlinical and genetic patterns of arrhythmogenic cardiomyopathy in children after heart transplant or on the heart transplant waiting list

Aim: to study the clinical characteristics and genetic spectrum of children with arrhythmogenic cardiomyopathy (ACM) who have undergone heart transplantation (HT) or are currently on the heart transplantation waiting list (HTWL) Materials and Methods: this study included 5 pediatric patients with 3 female patients (60%) diagnosed with ACM who had either undergone HT or were on the HTWL. The mean age of the cohort was 16 [7,5; 16]. Comprehensive assessments were performed for all participants, including evaluation of clinical complaints (palpitations, syncope, symptoms of heart failure (HF)), family history, electrocardiography (ECG), ambulatory ECG monitoring (AECGM), echocardiography, cardiac magnetic resonance imaging (MRI), and endomyocardial biopsy (EMB) of the right cardiac chambers with PCR analysis. Molecular genetic testing was also conducted. Patients were stratified according to the 2010 Task Force criteria and Padua criteria for arrhythmogenic cardiomyopathy diagnosis Results: all participants were diagnosed with ACM. Of these, 4 (80%) presented with a biventricular phenotype, while 1 (20%) had a left ventricular (LV)-dominant phenotype. Pathological LV involvement was observed in all patients (100%). The mean left ventricular ejection fraction was 24,0 [22,0; 34,5]%. The average time to HF progression from disease onset was 3±1.6 years. Genetic testing revealed pathogenic mutations in desmosomal genes in 4 patients (80%), while 1 patient (20%) carried non-desmosomal mutations. Additionally, compound mutations were identified in 3 patients (60%), a digenic mutation in non-desmosomal genes in 1 patient (20%), and a frameshift mutation in 1 patient (20%). Conclusion: this study highlights the clinical and genetic patterns of ACM in pediatric patients who have undergone HT or are on HTWL It underscores the importance of molecular genetic testing, not only as a diagnostic tool for ACM but also as a means of identifying patients at higher risk for adverse disease outcomes. KEYWORDS: arrhythmogenic cardiomyopathy, children, heart transplantation, heart failure. FOR CITATION: Alekseeva D.Yu., Kofeinikova O.A., Kostareva A.A., Vershinina T.L., Kovalchuk T.S., Fedotov P.A., Pervunina T.M., Peregudina O.L., Sitnikova M.Y., Simonenko M.A., Vasichkina E.S. Сlinical and genetic patterns of arrhythmogenic cardiomyopathy in children after heart transplant or on the heart transplant waiting list. Russian Journal of Woman and Child Health. 2025;8(1):56–62 (in Russ.). DOI: 10.32364/2618-8430-2025-8-1-9