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Updated: Mar 14, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

Catherine Gardin1, Pierre-Emmanuel Michels2, Elena Panaioli3

  • 1Pediatric Cardiology and Pediatric Intensive Care Unit, Angers University Hospital, Angers, France.

Frontiers in Genetics
|March 13, 2026
PubMed

Insights

Restrictive cardiomyopathy (RCM) in children has a poor prognosis. Sarcomeric variants, compared to non-sarcomeric ones, are linked to worse survival and more thrombotic events.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Cardiovascular Research

Background:

  • Restrictive cardiomyopathy (RCM) is a severe pediatric heart condition with a poor prognosis.
  • RCM is typically diagnosed between ages 6-10 and often has a genetic basis.

Purpose of the Study:

  • To investigate the association between genetic variant type and patient outcomes in pediatric RCM.
  • To compare the prognosis of RCM patients with sarcomeric variants versus non-sarcomeric variants.

Main Methods:

  • Retrospective study of 53 pediatric RCM patients.
  • Comparison of outcomes between patients with sarcomeric (n=26) and non-sarcomeric (n=27) genetic variants.
  • Analysis included heart failure symptoms, NT-proBNP levels, hemodynamic parameters, survival, and thrombotic events.

Main Results:

  • No significant differences in initial heart failure symptoms, NT-proBNP, or hemodynamics between groups.
  • Significantly worse survival without transplantation in the sarcomeric variant group (p=0.003).
  • Higher incidence of thrombotic events in the sarcomeric group (p=0.05) and greater disease severity.

Conclusions:

  • Pediatric RCM caused by sarcomeric variants is associated with a poorer prognosis.
  • Sarcomeric RCM variants correlate with increased disease severity and a higher risk of thrombotic events compared to non-sarcomeric variants.

Keywords:
cardiomyopathyheart transplantationpediatricrestrictive cardiomyopathysarcomeric

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