Successful heart transplant in a child with congenital titinopathy

Swiss and British researchers report the case of a 13-year-old adolescent who required a heart transplant at the age of 5:

• he initially presented with neonatal hypotonia and respiratory disorders attributed to congenital myopathy unrelated to the MTM1 and RYR1 genes,
• Severe restrictive cardiomyopathy appeared from the age of 3, and led to the suggestion of transplantation.
• Successfully transplanted at the age of 5, the child has recovered very well in terms of cardiac function, but retains moderate myopathic disorders in the periphery, necessitating non-invasive nocturnal ventilation.
• two homozygous composite variants were subsequently identified in the TTN gene encoding titin.

 

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene. Wacker J, Di Bernardo S, Lobrinus JA et al. Pediatr Transplant. 2023 Jun.