증례 Fig. 1. Pedigree of the family. Squares indicate male family members, circles female family members, and symbols with a slash mark deceased family

Case Reports Korean Circulation J 2000;3010:1316-1322 발작성고도방실차단을동반하여영구형인공심박조율기를 삽입한 Emery-Dreifuss 형근이영양증 1 례 홍종서 1 강지향 1 이공섭 1 이창선 1 최현주 1 이병두 2 김준수 3 서연림 4 김덕경 3 지제근 5 안경주 1 A Case of High Degree AV Block Treated by Implantation of Permanent Pacemaker in Emery-Dreifuss Muscular Dystrophy Jong Seo Hong, MD 1, Ji Hyang Kang, MD 1, Goung Sup Lee, MD 1, Chang Seon Lee, MD 1, Hyun Ju Choi, MD 1, Byung Doo Lee, MD 2, June Soo Kim, MD 3, Yeon-Lim Suh, MD 4, Duk-Kyung Kim, MD 3, Je Geun Chi, MD 5 and Kyoung Ju Ahn, MD 1 1 Department of Internal Medicine, 2 Pathology, Han-il General Hospital, Seoul, 3 Department of Medicine, 4 Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 5 Department of Pathology, Seoul National University College of Medicine, Seoul, Korea ABSTRACT Emery-Dreifuss muscular dystrophy is characterized by 1 early contractures of the elbows, Achilles tendons, and postcervical muscles, 2 slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages, and 3 cardiomyopathy with conduction defects and risk of sudden death. The inheritance is usually X-linked recessive but can be autosomal dominant and recessive. We report a case of 28-year old woman who presented with dizziness, palpitation, and progressive muscular weakness. Her ECG revealed high degree AV block and muscle biopsy demonstrated diffuse degenerative change consistent with Emery-Dreifuss muscular dystrophy. She was diagnosed as autosomal dominant Emery-Dreifuss muscular dystrophy by characteristic clinical features, and findings of ECG, nerve conduction test, electromyography and muscle biopsy findings. A VVI-type permanent pacemaker was implanted. Korean Circulation J 2000;3010:1316-1322 KEY WORDSEmery-Dreifuss muscular dystrophy High degree AV block Permanent pacemaker implantation. 서 론 1316

증례 Fig. 1. Pedigree of the family. 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 symb ols indicate the presence of neuromuscular symptoms. Arrow represe-nts proband. 1317

Fig. 2. Clinical picture of patient. There are scapulohumeroperoneal muscular atrophy with the elbow joint contractures and Achilles tendon contractures. Patient keeps heels off floor foot equinus deformities. Fig. 3. Marked limitation of neck flexion (left) dorsiflexion normal (right). 1318 Korean Circulation J 2000;30(10):136-1322

Fig. 4. This 12-leads electrocardiogram showed left axis deviation, left anterior hemiblock, first degree atrioventricular block, sinus pause and poor R progression. Fig. 5. Twenty four hours continuous ECG monitoring showed underlying first degree AV block, episode of atrial tachycardia with high degree AV block (atrial rate 120 BPM). 제하기 위하여 시행한 dystrophin 면역조직화학 염색 에서 정상 dystrophin의 발현 소견을 보였다. 이상의 소 견은 일차성 근병증의 소견으로 Emery-Dreifuss형 근 이영양증에서 기술된 병리 소견과 일치하였다(Fig. 6A and 6B). 이 환자는 근육 및 심장에 증상이 표현된 상염색체 우성으로 유전되는 Emery-Dreifuss형의 근이영양증 으로 진단하고, 고도 방실 차단으로 인한 급사의 위험 성 때문에 VVI 형의 영구 인공 심박동기를 삽입하였다 (Fig. 7). 현재 환자의 어지러움, 심계항진 등의 증상 없 이 외래에서 경과관찰 중이다. 고 찰 진행성 근이영양증(progressive muscular dystro- Fig. 6. A The light microscopic finding of muscle biopsy specimen. Myofibers are reduced in number and replaced by fibroadipose tissue. There are atrophic or hypertrophic myofibers, internalization of sarcolemmal nuclei and fiber splitting ( 200). B Immunohistochemical staining with anti-dystrophin monoclonal antibody (NeoMarkers, 1 50) reveals a normal expression of dystrophin along the sarcolemma ( 400). 1319

Fig. 7. Limb-leads electrocardiogram after pacemaker insertion showed ventricular pacing. 1320 Korean Circulation J 2000;3010:136-1322

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