Emery-Dreifuss Muscular Dystrophy with Cardiac Involvement.
10.4070/kcj.1992.22.1.160
- Author:
Joo Hyun PARK
;
Ki Bae SEUNG
;
Chong Jin KIM
;
Tae Ho RO
;
Chang Sung CHAE
;
Jae Hyung KIM
;
Soon Jo HONG
;
Kyu Bo CHOI
- Publication Type:Case Report
- Keywords:
Emery-Dreifuss muscular dystrophy;
Atrial standstill
- MeSH:
Bradycardia;
Contracture;
Death, Sudden;
Diagnosis;
Dyspnea;
Genes, X-Linked;
Humans;
Muscle Weakness;
Muscular Dystrophy, Emery-Dreifuss*;
Walking;
Young Adult
- From:Korean Circulation Journal
1992;22(1):160-165
- CountryRepublic of Korea
- Language:Korean
-
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.
