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Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from

Keiichi Hirono1, Yukiko Hata2, Shojiro Ichimata2

  • 1Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City, 2630 Sugitani, Toyama, 930-0194, Japan. khirono@med.u-toyama.com.

Scientific Reports
|December 16, 2024
PubMed

Insights

Genetic variations impact left ventricular reverse remodeling (LVRR) in pediatric dilated cardiomyopathy (DCM). Children without identified gene variants showed significant LVRR improvement, unlike those with sarcomere or non-sarcomere gene variants.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Dilated cardiomyopathy (DCM) is a serious heart condition affecting cardiac contraction.
  • Left ventricular reverse remodeling (LVRR) signifies improvement in some DCM patients.
  • Genetic links to LVRR in pediatric DCM are not well understood.

Purpose of the Study:

  • To investigate the association between genetic variants and LVRR in pediatric DCM patients.
  • To explore how different gene groups influence clinical outcomes in children with DCM.

Main Methods:

  • Retrospective analysis of 123 pediatric DCM patients from Japanese institutions (2014-2023).
  • Identification of DCM-related genes and pathogenic variants.
  • Comparison of LVRR rates and left ventricular ejection fraction changes based on genotype.

Main Results:

  • Pathogenic variants were found in 35% of patients, with MYH7, RYR2, and TPM1 being most common.
  • LVRR occurred in 47.5% of all patients.
  • Significant LVRR improvement was observed in patients without gene variants, unlike those with sarcomere or non-sarcomere variants.

Conclusions:

  • Genetic background significantly influences LVRR in pediatric DCM.
  • An individualized, gene-guided approach may aid in predicting outcomes for children with DCM.
  • Further research into genotype-specific therapeutic strategies is warranted.

Keywords:
Dilated cardiomyopathyGeneticsHeart failureLeft ventricular reverse remodelingSarcomere gene

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