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

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.

• Authors: Julie Wacker, Stefano Di Bernardo, Johannes Alexander Lobrinus, Heinz Jungbluth, Mathias Gautel, Maurice Beghetti, Joel Fluss
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 27 Issue 6 Pg. e14561 (09 2023) ISSN: 1399-3046 [Electronic] Denmark
• PMID: 37345726 (Publication Type: Case Reports)
• Copyright: © 2023 The Authors. Pediatric Transplantation published by Wiley Periodicals LLC.

Chemical References

• Connectin
• TTN protein, human

Topics

• Male
• Humans
• Child
• Child, Preschool
• Connectin (genetics)
• Cardiomyopathy, Restrictive (complications, genetics)
• Muscular Diseases (genetics)
• Mutation
• Heart Transplantation