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ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

This article is part of the Research TopicNew Insights in Rare Genes Involved in Inherited Cardiac DiseasesView all 9 articles

Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

Provisionally accepted
CATHERINE GARDINCATHERINE GARDIN1*PIERRE-EMMANUEL MICHELSPIERRE-EMMANUEL MICHELS2Elena PanaioliElena Panaioli3ELISE DAIREELISE DAIRE4FLAVIE ADERFLAVIE ADER5SOPHIE MALEKZADEH MILANISOPHIE MALEKZADEH MILANI3DAMIEN BONNETDAMIEN BONNET3DIALA KHRAICHEDIALA KHRAICHE3
  • 1Réanimation et SMUR pédiatrique, Cardiologie pédiatrique et congénitale, Service de pédiatrie, Centre Hospitalier Universitaire d'Angers, Angers, France
  • 2Centre Hospitalier Universitaire d'Angers Psychiatrie Adultes, Angers, France
  • 3M3C-Necker, Congenital and Pediatric Cardiology Department, Hopital Universitaire Necker-Enfants Malades, Paris, France
  • 4Pediatric cardiology department, Centre Hospitalier Universitaire Amiens-Picardie, Amiens, France
  • 5Sorbonne Université- DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et cellulaire, Service de Biochimie Métabolique, APHP-Hôpital Universitaire Pitié Salpêtrière, Paris, France INSERM UMRS1166 Équipe 1, ICAN Institute, Paris, France Université Paris Cité, UFR de Pharmacie, 4 av de l'observatoire, 75006 Paris, France, Hopital Universitaire Pitie-Salpetriere, Paris, France

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Restrictive cardiomyopathy (RCM) is the most severe type of cardiomyopathy in children with a very poor prognosis. RCM is often diagnosed between 6 and 10 years old and is predominantly of genetic origin. We conducted a retrospective study of 53 patients. The aim of our study was to determine whether outcomes are associated with the type of genetic variant. We compared the prognosis of patients with sarcomeric variants (n=26) to those with non sarcomeric variants (n=27). Our results showed no significant differences between the two groups at diagnosis in terms of heart failure symptoms, NT-proBNP levels, or hemodynamic parameters. However, survival without transplantation was significantly worse in the sarcomeric group (p = 0.003), which also exhibited greater disease severity. Furthermore, thrombotic events were more frequent in the sarcomeric group (p = 0.05). In conclusion, RCM caused by sarcomeric variants is associated with a poorer prognosis and a higher incidence of thrombotic events compared to non-sarcomeric RCM.

Keywords: cardiomyopathy, Heart Transplantation, pediatric, Restrictive cardiomyopathy, Sarcomeric

Received: 03 Jul 2025; Accepted: 24 Dec 2025.

Copyright: © 2025 GARDIN, MICHELS, Panaioli, DAIRE, ADER, MALEKZADEH MILANI, BONNET and KHRAICHE. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: CATHERINE GARDIN

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