A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation
Korean Circulation Journal
; : 143-149, 2003.
Artículo
en Coreano
| WPRIM (Pacífico Occidental)
| ID: wpr-214877
Biblioteca responsable:
WPRO
ABSTRACT
Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative myopathy characterized by mild, slowly progressing weakness, muscle atrophy, and early contracture of the neck, ankle and elbow. Heart involvement becomes apparent during the teenage years and is characterized by cardiac conduction defects and the infiltration of the myocardium by fibrous and adipose tissues. Heart block can eventually lead to sudden death, and therefore, early treatment with a cardiac pacemaker may improve symptoms and be lifesaving in patients with heart block. We describe our experience of pacemaker implantation in a 14-year old boy with X-linked recessive EDMD and emerin gene mutation. His electrocardiogram findings showed junctional escape beats, and his clinical features, i.e., ECG, nerve conduction test, electromyography and muscle biopsy findings were compatible with EDMD. He was implanted with a VVI type permanent pacemaker following an electrophysiologic study.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Marcapaso Artificial
/
Atrofia
/
Naciones Unidas
/
Biopsia
/
Debilidad Muscular
/
Contractura
/
Distrofia Muscular de Emery-Dreifuss
/
Muerte Súbita
/
Codo
/
Electrocardiografía
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Circulation Journal
Año:
2003
Tipo del documento:
Artículo