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

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1 Case Reports Korean Circulation J 2000;3010: 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: KEY WORDSEmery-Dreifuss muscular dystrophy High degree AV block Permanent pacemaker implantation. 서 론 1316

2 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

Patient keeps heels off floor foot equinus deformities.

3 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) Korean Circulation J 2000;30(10):

block (atrial rate 120 BPM). 제하기 위하여 시행한 dystrophin 면역조직화학 염색 에서 정상 dystrophin의 발현 소견을 보였다.

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).

4 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

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

6 요약 중심단어 REFERENCES 1) Emery AE. X-linked muscular dystrophy with early contracture and cardiomyopathy Emery-Dreifuss type. Clin Genet ) Emery AE. Emery-Dreifuss syndrome. J Med Genet ) Kantor HL, Krishnan SC. Cardiac problems in patients with neurologic disease. Cardiol Clin ) Emery AE, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry ) Becker PE. Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy Hauptmann-Thannhauser. Hum Genet ) Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC. Emery-Dreifuss muscular dystrophy with autosomal transmission. Neurology ) Taylor J, Sewry CA, Dubowitz V, Muntoni F. Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. Neurology ) Yates JR, Warner JP, Smith JA, Deymeer F, Azulay JP, Petrusewicz IH, et al. Emery-Dreifuss muscular dystrophy linkage to markers in distal Xq28. J Med Get ) Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery- Dreifuss muscular dystrophy. Nat Genet ) Cartegni L, Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, et al. Heart-specific localization of emerin: new insight into Emery-Dreifuss muscular dystrophy. Hum Mol Genet ) Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Liense S, Leturcq F, et al. Mutation in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet ) Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutation in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet ) Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics ) Manilal S, Sewry CA, Pereboev A, Man N, Gobbi P, Hawkes S, et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet ) Fatkin D, Macrae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutation in the rod domain of the lamin AC gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med ) Voit T, Krogmann O, Lenard HG, Jacob EN, Wechsler W, Goebel HH, et al. Emery-Dreifuss muscular dystrophy 1321

7 disease spectrum and differential diagnosis. Neuropediatrics ) Takamoto K, Hirose K, Uono M, Nonaka I. A genetic variant of Emery-Dreifuss disease muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. Arch Neurol ) Buckley AE, Dean J, Mahy IR. Cardiac involvement in Emery-Dreifuss muscular dystrophy a case series. Heart ) Perloff JK. Neurological disorder and heart disease. In: Braunwald E. editors. Heart disease A text book of cardiovascular medicine. 5th ed. WB Saunders Co1997.p ) Merchut MP, Zdonczyk D, Gujrati M. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol ) Fishbein MC, Siegel RJ, Thompson CE, Hopkins LC. Sudden death of a carrier of X-linked muscular dystrophy. Ann Intern Med ) Nevo Y, Allozi M, Parsadanian AS, Elliot JL, Connolly AM, Pestronk A. Mutation analysis in Emery-Dreifuss muscular dystrophy. Pediat Neurol Korean Circulation J 2000;3010:

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