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

Kang, Ji Hyang; Lee, Goung Sup; Lee, Chang Seon; Choi, Hyun Ju; Lee, Byung Doo; Kim, June Soo; Suh, Yeon Lim; Kim, Duk Kyung; G., Je; Ahn, Kyoung Ju

doi:10.4070/kcj.2000.30.10.1316

Cited by 3 publications

(1 citation statement)

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“…Genetic analyses were performed to identify mutations in the LMNA and emerin genes. The genetic analysis of mutations in the lamin gene (EDMD2, LGMD1B) has been reported previously ( 8 ), and parts of clinical findings of case 1 and 2 were described elsewhere ( 9 , 10 ).…”

Section: Methodsmentioning

confidence: 99%

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Hong

Kim

et al. 2005

J Korean Med Sci

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Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report three cases of EDMD, EDMD2 and LGMD1B. A 14-yr-old boy showed limitation of cervical flexion and contractures of both elbows and ankles. Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles. Marked limitation of cervical flexion and contractures of both elbows and ankles were noted. Varying degrees of AV block were noted. She was diagnosed as autosomal dominant EDMD2 (MIM 181350). A 41-yr-old female had contractures of both ankles and limb-girdle type muscular dystrophy. ECG revealed atrial tachycardia with high grade AV block. She was diagnosed as autosomal dominant LGMD1B (MIM 159001). Cardiac dysrhythmias in EDMD and LGMD1B include AV block, bradycardia, atrial tachycardia, atrial fibrillation, and atrial standstill, causing sudden death necessitating pacemaker implantation. Cardiologists should know about these unusual genetic diseases with conduction defects, especially in young adults.

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Section: Methodsmentioning

confidence: 99%

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Hong

Kim

et al. 2005

J Korean Med Sci

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

et al. 2003

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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. ( 본 연구진은 lamin 유전자 돌연변이에 의한 EDMD

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