Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants

TL;DR

Pediatric restrictive cardiomyopathy caused by sarcomeric genetic variants has a worse prognosis and more thrombotic events than non-sarcomeric variants.

Contribution

This study identifies sarcomeric genetic variants as a marker of worse prognosis in pediatric restrictive cardiomyopathy.

Findings

Sarcomeric RCM patients had significantly worse survival without transplantation compared to non-sarcomeric RCM patients.

Thrombotic events were more frequent in patients with sarcomeric RCM variants.

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.

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