Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

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.

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Publication Details

Journal
Frontiers in Genetics
Published
2026-02-26
DOI
https://doi.org/10.3389/fgene.2025.1659218
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
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article

Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

S. Malekzadeh-Milani, Catherine Gardin, Elise Daire, Diala Khraiche et al.
Frontiers in Genetics
Cardiomyopathy and Myosin Studies
article

Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

S. Malekzadeh-Milani, Catherine Gardin, Elise Daire, Diala Khraiche, Elena Panaioli, Flavie Ader, Pierre-Emmanuel Michels, Damien Bonnet
article en

Abstract

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.

Frontiers in GeneticsVol. 16
Hôpital Necker-Enfants Malades (FR), Inserm (FR), Université Paris Cité (FR), Sorbonne Université (FR), Institut Necker Enfants Malades (FR), Sorbonne Paris Cité (FR), Pitié-Salpêtrière Hospital (FR), University Psychiatric Hospital (SI), Université de Picardie Jules Verne (FR), Université d'Angers (FR)
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Openalex Percentile: Top 47%
Cardiomyopathy and Myosin Studies
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