Primary cardiomyopathy in paediatrics: experience in Colombia

Abstract Background: Childhood-onset cardiomyopathies are rare and not well characterised. This study aimed to describe the clinical features of a paediatric cohort with primary cardiomyopathies, with a particular focus on aetiology and both short- and long-term outcomes. Materials and Methods: A retrospective descriptive study was conducted, including patients diagnosed with primary cardiomyopathies before the age of 18. Clinical presentation, aetiology, and outcomes were analysed for each morphological subtype of cardiomyopathy. Results: A total of 76 patients met the inclusion criteria. Dilated cardiomyopathy was the most common subtype (48.6%), followed by hypertrophic (31.5%), left ventricular non-compaction (10.5%), restrictive (5.2%), and arrhythmogenic cardiomyopathy (3.9%). The mean age at diagnosis was 6.3 ± 5.6 years, with a slight female predominance (56.6%). The rate of genetic diagnosis was 25.6%; the most commonly identified pathogenic or likely pathogenic variants were in MYH7, FLNC, TTN, and MYBPC3 , across different morphological subtypes. A total of 94.7% of patients received at least one cardiovascular medication, and 9.2% received intracardiac devices. The overall mortality rate was 22.3%, and the heart transplant rate was 15.7%. Conclusions: These findings highlight the heterogeneous aetiology of paediatric cardiomyopathies and the variability in outcomes according to morphological, genetic, and clinical subtypes. The results underscore the importance of individualised evaluation and management for affected patients.