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Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
J Korean Med Sci. 2005 Apr; 20(2):283-90.JK

Abstract

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.

Authors+Show Affiliations

Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15832002

Citation

Hong, Jong-Seo, et al. "Cardiac Dysrhythmias,cardiomyopathy and Muscular Dystrophy in Patients With Emery-Dreifuss Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 1B." Journal of Korean Medical Science, vol. 20, no. 2, 2005, pp. 283-90.
Hong JS, Ki CS, Kim JW, et al. Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. J Korean Med Sci. 2005;20(2):283-90.
Hong, J. S., Ki, C. S., Kim, J. W., Suh, Y. L., Kim, J. S., Baek, K. K., Kim, B. J., Ahn, K. J., & Kim, D. K. (2005). Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. Journal of Korean Medical Science, 20(2), 283-90.
Hong JS, et al. Cardiac Dysrhythmias,cardiomyopathy and Muscular Dystrophy in Patients With Emery-Dreifuss Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 1B. J Korean Med Sci. 2005;20(2):283-90. PubMed PMID: 15832002.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. AU - Hong,Jong-Seo, AU - Ki,Chang-Seok, AU - Kim,Jong-Won, AU - Suh,Yeon-Lim, AU - Kim,June Soo, AU - Baek,Kyung Kee, AU - Kim,Byoung Joon, AU - Ahn,Kyoung Ju, AU - Kim,Duk-Kyung, PY - 2005/4/16/pubmed PY - 2005/7/15/medline PY - 2005/4/16/entrez SP - 283 EP - 90 JF - Journal of Korean medical science JO - J Korean Med Sci VL - 20 IS - 2 N2 - 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. SN - 1011-8934 UR - https://www.unboundmedicine.com/medline/citation/15832002/Cardiac_dysrhythmiascardiomyopathy_and_muscular_dystrophy_in_patients_with_Emery_Dreifuss_muscular_dystrophy_and_limb_girdle_muscular_dystrophy_type_1B_ L2 - https://jkms.org/DOIx.php?id=10.3346/jkms.2005.20.2.283 DB - PRIME DP - Unbound Medicine ER -