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Primary cardiomyopathy in paediatrics: experience in Colombia
Andres David Aranzazu-Ceballos1, Carolina Baquero2, Eliana Cañas-Arenas3
1Department of Pediatric Cardiology, Clínica Cardio VID - Universidad Pontificia Bolivariana, Medellín, Colombia.
Childhood cardiomyopathies are diverse, with dilated cardiomyopathy being most common. Outcomes vary significantly by subtype, emphasizing the need for personalized care in pediatric heart disease.
Area of Science:
- Pediatric Cardiology
- Cardiovascular Genetics
- Rare Diseases
Background:
- Childhood-onset cardiomyopathies are rare and poorly understood.
- Primary cardiomyopathies in children require detailed characterization.
Purpose of the Study:
- To describe clinical features of pediatric primary cardiomyopathies.
- To investigate aetiology and outcomes in a pediatric cohort.
Main Methods:
- Retrospective descriptive study of patients under 18 with primary cardiomyopathies.
- Analysis of clinical presentation, aetiology, and outcomes by cardiomyopathy subtype.
Main Results:
- 76 patients included; dilated cardiomyopathy most common (48.6%).
- Genetic diagnosis rate was 25.6%, with variants in MYH7, FLNC, TTN, MYBPC3.
- Mortality rate 22.3%, heart transplant rate 15.7%.
Conclusions:
- Paediatric cardiomyopathies show heterogeneous aetiology and variable outcomes.
- Individualized evaluation and management are crucial for affected children.
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