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Survival, clinical, and genetic findings in paediatric cardiomyopathy: a five-year prospective study from Brazil

Ana Flávia M Torbey1,2, Raquel G T Couto3, Aurea Lucia A A G de Souza1,3

  • 1Fluminense Federal University, Niterói, Rio de Janeiro, Brazil.

Cardiology in the Young
|September 25, 2025
PubMed

Insights

This study reveals high genetic positivity in Brazilian pediatric cardiomyopathy patients, especially with systemic involvement. Key clinical factors predict mortality, aiding risk stratification and care for these complex heart conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Limited prospective cohort studies exist on pediatric cardiomyopathies in Brazil, particularly integrating clinical and genetic data.
  • This study addresses the gap by examining a cohort in a Brazilian metropolitan region.

Purpose of the Study:

  • To characterize the clinical and genetic profiles of pediatric cardiomyopathy patients in Brazil.
  • To identify predictors of mortality in this population to improve patient management.

Main Methods:

  • A prospective observational study was conducted on pediatric patients diagnosed with cardiomyopathies.
  • Clinical data, genetic findings, and survival outcomes were collected and analyzed.
  • Kaplan-Meier curves were used to assess survival rates and identify significant predictors.

Main Results:

  • The study included 45 pediatric patients, with a male predominance and a mean age of 6.5 years at diagnosis. Dilated and hypertrophic cardiomyopathies were most prevalent.
  • Genetic testing revealed a 60% positivity rate, significantly higher in cases with multi-organ/system involvement (77.7%).
  • Mortality was 11.1%, with significantly lower survival associated with reduced ejection fraction (<30%), advanced functional class (III/IV), heart failure, extensive medication use, elevated NT-proBNP (>1000 pg/mL), and heart transplant indication.

Conclusions:

  • This research provides crucial new data on pediatric cardiomyopathies in Brazil, emphasizing a high rate of genetic diagnoses.
  • The findings underscore the importance of genetic testing, especially in patients with systemic manifestations.
  • Identified clinical predictors of mortality are vital for refining risk stratification and guiding clinical care strategies.
Abstract

Keywords:
Paediatric cardiomyopathiesgeneticsheart failureprecision medicinesurvival rate

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