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Clinical usefulness of genetic diagnosis in early-onset cardiomyopathies

Andrea Greco1, Sergi César2, Estefanía Martínez-Barrios2

  • 1Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues de Llobregat, Barcelona, Spain; Unidad de Arritmias, Cardiopatías Familiares y Muerte Súbita, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands; Departamento de Pediatría, Facultad de Medicina y Ciencias de la salud, Universidad de Barcelona, Barcelona, Spain.

Revista Espanola De Cardiologia (English Ed.)
|February 15, 2026
PubMed

Insights

Children with early-onset nonsyndromic cardiomyopathies (eoNSCM) carrying multiple genetic variants face a significantly higher risk of cardiac events (CE). Genetic burden is a key factor in predicting outcomes for pediatric eoNSCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Early-onset nonsyndromic cardiomyopathies (eoNSCM) are rare pediatric conditions often leading to cardiac events (CE).
  • The prognostic significance of multiple genetic variants in eoNSCM is not fully understood.
  • Understanding genetic factors is crucial for managing pediatric cardiomyopathy outcomes.

Purpose of the Study:

  • To describe clinical outcomes in a pediatric cohort with eoNSCM.
  • To analyze the association between genetic burden and cardiac events in pediatric eoNSCM.
  • To identify genetic factors influencing prognosis in early-onset cardiomyopathy.

Main Methods:

  • Retrospective single-center study of pediatric patients diagnosed with eoNSCM.
  • Clinical data and genetic information were analyzed.
  • Primary outcome was the occurrence of major cardiac events (CE), including arrhythmias, heart failure, and transplantation.

Main Results:

  • 84 pediatric patients diagnosed with eoNSCM (median age 13 years); hypertrophic cardiomyopathy was most common (63%).
  • A conclusive genetic diagnosis was achieved in 62% of patients.
  • Patients with multiple genetic variants had a 7.27-fold increased risk of CE compared to those with a single variant (P < .001).

Conclusions:

  • Pediatric eoNSCM frequently involves multiple rare genetic variants.
  • Increased genetic burden in pediatric eoNSCM is significantly associated with a higher risk of cardiac events.
  • Genetic profiling is essential for risk stratification in pediatric cardiomyopathy.
Abstract

Keywords:
Aparición temprana en pediatríaArrhythmogenic riskCardiomyopathyGenetic testingMiocardiopatíaPediatric early onsetPruebas genéticasRare variantsRiesgo arritmogénicoVariantes raras

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