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一例以心力衰竭为首发症状的贝克型肌营养不良症

[A case of Becker muscular dystrophy presenting cardiac failure as an initial symptom].

作者信息

Sakata C, Sunohara N, Nonaka I, Arahata K, Sugita H

机构信息

Department of Neurology, National Center of Neurology and Psychiatry.

出版信息

Rinsho Shinkeigaku. 1990 Feb;30(2):210-3.

PMID:2190744
Abstract

Was reported a 23-year-old man with Becker muscular dystrophy (BMD), manifesting heart failure as an initial symptom. He had admitted to a hospital because of his sudden exertional dyspnea due to dilated cardiomyopathy. Because of elevated serum CK level, he had admitted to our hospital for further clinical evaluation. His uncle and male cousin were affected by a mild progressive muscle weakness since second decades. Physically, his intelligence was slightly below the average (WAIS total IQ 71). There was a slight weakness in his pelvic and shoulder girdle muscles. Pseudohypertrophy was observed in calves and tongue. Serum CK level was markedly elevated to ten times of the upper normal limits. Both EMG and muscle biopsy examinations revealed mild myopathic changes. Electrocardiogram showed tall R waves in leads V1 and V2, abnormal Q waves in I, aVL, V5 and V6 and flattened T waves in V5 and V6. On immunostaining of the biopsied skeletal muscle, patchy appearance of dystrophin on the surface membrane of the fiber was detected, which is consistent with BMD. Myocardiac damages in BMD are not always related either to the duration or the severity of the skeletal muscle weakness, as shown in our present case. The possibility that subclinical BMD is one of causes for dilated cardiomyopathy always must be considered.

摘要

据报道,一名23岁的男性患有贝克型肌营养不良症(BMD),以心力衰竭作为首发症状。他因扩张型心肌病导致的突发劳力性呼吸困难而入院。由于血清肌酸激酶(CK)水平升高,他入住我院进行进一步的临床评估。他的叔叔和堂兄自二十多岁起就患有轻度进行性肌肉无力。体格检查发现,他的智力略低于平均水平(韦氏成人智力量表总智商为71)。其骨盆带和肩胛带肌肉有轻度无力。小腿和舌头出现假性肥大。血清CK水平显著升高至正常上限的10倍。肌电图和肌肉活检检查均显示轻度肌病改变。心电图显示V1和V2导联R波高尖,I、aVL、V5和V6导联出现异常Q波,V5和V6导联T波低平。对活检的骨骼肌进行免疫染色时,检测到肌纤维表面膜上肌营养不良蛋白呈斑片状分布,这与BMD相符。如本例所示,BMD中的心肌损害并不总是与骨骼肌无力的持续时间或严重程度相关。必须始终考虑亚临床BMD是扩张型心肌病病因之一的可能性。

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