Key result
Sarcomeric variants in pediatric RCM are linked to faster heart transplantation, at ~9 months vs 67.
Why the study?
Pediatric restrictive cardiomyopathy has a very poor prognosis and is predominantly genetic, but whether clinical outcomes are associated with the specific type of genetic variant remained to be determined.
Does the presence of sarcomeric variants worsen survival without transplantation in pediatric restrictive cardiomyopathy compared to non-sarcomeric variants?
Cohort (n=53)
No
Does the presence of sarcomeric variants worsen survival without transplantation in pediatric restrictive cardiomyopathy compared to non-sarcomeric variants?
Absolute Event Rate: 8.8% vs 66.8%
p-value: p=0.003
Pediatric restrictive cardiomyopathy caused by sarcomeric variants is associated with a poorer prognosis, shorter time to heart transplantation, and higher incidence of thrombotic events compared to non-sarcomeric variants.
May support genotype-informed monitoring in pediatric restrictive cardiomyopathy; leaves open prospective validation of variant-specific transplant strategies.
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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Gardin et al. (2026) conducted a cohort in Pediatric restrictive cardiomyopathy (n=53). Sarcomeric variants vs. Non-sarcomeric variants was evaluated on Time to heart transplantation (median months) (p=0.003). Pediatric restrictive cardiomyopathy caused by sarcomeric variants is associated with a significantly shorter median time to heart transplantation (8.8 vs 66.8 months, p=0.003) compared to non-sarcomeric variants.
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