Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy.
Bibliographical notePublisher Copyright:
© 2018 The Authors.
- Familial cardiomyopathy
- LNMA-related dilated cardiomyopathy
- Lamin A
- Limb-girdle muscular dystrophy
- Restrictive cardiomyopathy