Korean Circ J.  2000 Oct;30(10):1316-1322. 10.4070/kcj.2000.30.10.1316.

A Case of High Degree AV Block Treated by Implantation of Permanent Pacemaker in Emery-Dreifuss Muscular Dystrophy

• Hong JS
• Kang JH
• Lee GS
• Lee CS
• Choi HJ
• Lee BD
• Kim JS
• Suh YL
• Kim DK
• Chi JG
• Ahn KJ

• KMID: 1938421
• DOI: http://doi.org/10.4070/kcj.2000.30.10.1316

Abstract

Emery-Dreifuss muscular dystrophy is characterized by 1) early contractures of the elbows, Achilles tendons, and postcervical muscles, 2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages, and 3) cardiomyopathy with conduction defects and risk of sudden death. The inheritance is usually X-linked recessive but can be autosomal dominant and recessive. We report a case of 28-year old woman who presented with dizziness, palpitation, and progressive muscular weakness. Her ECG revealed high degree AV block and muscle biopsy demonstrated diffuse degenerative change consistent with Emery-Dreifuss muscular dystrophy. She was diagnosed as autosomal dominant Emery-Dreifuss muscular dystrophy by characteristic clinical features, and findings of ECG, nerve conduction test, electromyography and muscle biopsy findings. A VVI-type permanent pacemaker was implanted.

MeSH Terms

Achilles Tendon
Adult
Atrioventricular Block*
Biopsy
Cardiomyopathies
Contracture
Death, Sudden
Dizziness
Elbow
Electrocardiography
Electromyography
Female
Humans
Muscle Weakness
Muscles
Muscular Dystrophy, Emery-Dreifuss*
Neural Conduction
Wills