Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
复制标题
一名因肌联蛋白 (TTN) 基因隐性突变而患有先天性核心肌病和迟发性限制性心肌病的儿童成功进行心脏移植。
DOI：
10.1111/petr.14561
复制
发表时间：
2023
影响因子：
1.3
通讯作者：
Wacker J
中科院分区：
文献类型：
--
作者：
Wacker J
BackgroundMutations in theTTNgene, encoding the muscle filament titin, are a major cause of inherited dilated cardiomyopathy. Early‐onset skeletal muscle disorders due to recessiveTTNmutations have recently been described, sometimes associated with cardiomyopathies.Case DescriptionWe report the case of a boy with congenital core myopathy due to compound heterozygosity forTTNvariants. 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.ConclusionHeart transplantation may have a role in selected patients withTTN‐related congenital myopathy with disproportionally severe cardiac presentation compared to skeletal and respiratory muscle involvement.
