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

TY - JOUR

T1 - Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene

AU - Wacker, Julie

AU - Di Bernardo, Stefano

AU - Lobrinus, Johannes Alexander

AU - Jungbluth, Heinz

AU - Gautel, Mathias

AU - Beghetti, Maurice

AU - Fluss, Joel

N1 - Publisher Copyright: © 2023 The Authors. Pediatric Transplantation published by Wiley Periodicals LLC.

PY - 2023/9

Y1 - 2023/9

N2 - 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.

AB - 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.

KW - cardiomyopathy

KW - pediatric heart transplant

KW - titin

UR - http://www.scopus.com/inward/record.url?scp=85162724206&partnerID=8YFLogxK

U2 - 10.1111/petr.14561

DO - 10.1111/petr.14561

M3 - Article

AN - SCOPUS:85162724206

SN - 1397-3142

VL - 27

JO - PEDIATRIC TRANSPLANTATION

JF - PEDIATRIC TRANSPLANTATION

IS - 6

M1 - e14561

ER -