Korean Circ J.  1992 Feb;22(1):160-165. 10.4070/kcj.1992.22.1.160.

Emery-Dreifuss Muscular Dystrophy with Cardiac Involvement

• Park JH
• Seung KB
• Kim CJ
• Ro TH
• Chae CS
• Kim JH
• Hong SJ
• Choi KB

• KMID: 2093367
• DOI: http://doi.org/10.4070/kcj.1992.22.1.160

Abstract

Emery-Dreifuss muscular dystrophy has become recognized as a distinct neuromuscular disorder with features including X-linked inheritance, insidious onset in childhood of a distinct pattern of muscle contractures and weakness, slow progression without loss of ambulation, and occurrence by mid-childhood of atrial conduction defects, which, if untreated, cause sudden death. We report a case of Emery-Dreifuss dystrophy with cardiac involvement of atrial standstill. The patient was 24 year-old man, who had suffered from dyspnea and bradycardia and was inserted by VVI type permanent pacemaker. Cardiac involvement usually becomes evident as muscle weakness progress and provided that the diagnosis is made sufficiently early, the insertion of a cardiac pacemaker can be life saving.

Keyword

Emery-Dreifuss muscular dystrophy; Atrial standstill

MeSH Terms

Bradycardia
Contracture
Death, Sudden
Diagnosis
Dyspnea
Genes, X-Linked
Humans
Muscle Weakness
Muscular Dystrophy, Emery-Dreifuss*
Walking
Young Adult