Korean Circ J.  2003 Feb;33(2):143-149. 10.4070/kcj.2003.33.2.143.

A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation

• Kim SE
• Hong JS
• Ahn KJ
• Kim JS
• Kim DK

• KMID: 2029617
• DOI: http://doi.org/10.4070/kcj.2003.33.2.143

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.

Keyword

Muscular dystrophy, Emery-Dreifuss; Pacemaker, artificial

MeSH Terms

Adolescent
Ankle
Atrophy
Biopsy
Contracture
Death, Sudden
Elbow
Electrocardiography
Electromyography
Heart
Heart Block
Humans
Male
Muscle Weakness
Muscular Diseases
Muscular Dystrophy, Emery-Dreifuss*
Myocardium
Neck
Neural Conduction
Pacemaker, Artificial
United Nations