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Scientific article
Case report
Open access
English

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene

Published inPediatric transplantation, e14561
Publication date2023-06-22
First online date2023-06-22
Abstract

Background: Mutations in the TTN gene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early-onset skeletal muscle disorders due to recessive TTN mutations have recently been described, sometimes associated with cardiomyopathies.

Case description: We report the case of a boy with congenital core myopathy due to compound heterozygosity for TTN variants. He presented in infancy with rapidly evolving restrictive cardiomyopathy, requiring heart transplantation at the age of 5 years with favorable long-term cardiac and neuromuscular outcome.

Conclusion: Heart transplantation may have a role in selected patients with TTN-related congenital myopathy with disproportionally severe cardiac presentation compared to skeletal and respiratory muscle involvement.

eng
Keywords
  • Cardiomyopathy
  • Pediatric heart transplant
  • Titin
Citation (ISO format)
WACKER BOU PUIGDEFABREGAS, Julie Caroline et al. Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene. In: Pediatric transplantation, 2023, p. e14561. doi: 10.1111/petr.14561
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Article (Published version)
Identifiers
ISSN of the journal1397-3142
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Creation08/07/2023 11:10:14 AM
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