J Korean Med Sci.  2005 Apr;20(2):283-290. 10.3346/jkms.2005.20.2.283.

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

• Hong JS
• Ki CS
• Kim JW
• Suh YL
• Kim JS
• Baek KK
• Kim BJ
• Ahn KJ
• Kim DK

• KMID: 1095205
• DOI: http://doi.org/10.3346/jkms.2005.20.2.283

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.

Keyword

Muscular Dystrophies; Cardiomyopathies; emerin; Lamins; Heart Conduction System

MeSH Terms

Adolescent
Adult
Arrhythmia/*etiology
Cardiomyopathies/*etiology
Female
Humans
Male
Muscle, Skeletal/*pathology
Muscular Dystrophies,
Muscular Dystrophy,

Figure

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  Fig. 1 Photographs of each patient. (A) XR EDMD patient (case 1) showing flexion contractures of both elbows and Achilles tendons. (B) AD EDMD2 patient (case 2) showing marked muscular atrophy of upper and lower extremities with flexion contractures of both elbows and Achilles tendons. The patient keeps her heel off the floor with equinus deformities of the feet. (C) LGMD1B patient (case 3) shows peroneal dystrophy with Achilles tendon contractures. Equinus deformity of the right foot is more severe than the left one.

• 

  Fig. 2 Pedigrees of the families with XR EDMD (A), AD EDMD2 (B) and LGMD1B (C). Squares indicate male family members, circles female family members and symbols with a slash mark deceased family members. Open symbols indicate unaffected family members, filled symbols indicate the presence of neuromuscular and cardiac symptoms, and shaded symbols indicate family members who are or were probably affected. Arrows represent proband. B and C from reference 8.

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  Fig. 3 12-lead ECG of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) The ECG shows sinus arrest with junctional escape rhythm at a heart rate of 40 beats per minute. (B) The ECG shows left axis deviation, left anterior hemiblock, first-degree atrioventricular block, and sinus pause. (C) The ECG shows atrial fibrillation with ST-T changes.

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  Fig. 4 Findings of ambulatory ECG monitorings of EDMD (A), AD EDMD2 (B) and LGMD1B (C). (A) Atrial fibrillation with complete AV block and junctional escape rhythm. (B) Slow nonsustained atrial tachycardia at a rate of 120 beats per minute with high grade AV block. (C) Atrial tachycardia and high grade (3:1, 4:1) AV block with the longest R-R interval of 2.06 sec.

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  Fig. 5 Findings of electrophysiologic study in a patient with XR EDMD (case 1). Electrophysiologic study shows no electrical signal in the right upper atrium. Junctional escape beats are noted.

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  Fig. 6 The histopathologic findings of skeletal muscle biopsy specimen in AD EDMD2 (A) and LGMD1B (B-D) patient. (A) Myofibers are reduced in number and replaced by fibroadipose tissues. There are atrophic or hypertrophic myofibers, internalization of sarcolemmal nuclei and fiber splitting (hematoxylin and eosin stain, ×200). (B) Variation in myofiber size, frequent internal nuclei and fatty ingrowth are noted in hematoxylin and eosin stain (×200). (C) ATPase pH 4.6 stain reveals atrophy of type 1 fibers (dark brown stain, ×200). (D) ATPase pH 9.4 stain reveals a predominance of type 2 fibers (brown stain, ×100).

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