首页    期刊浏览 2024年11月28日 星期四
登录注册

文章基本信息

  • 标题:A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
  • 本地全文:下载
  • 作者:Doo, Ki Hyun ; Ryu, Hye Won ; Kim, Seung Soo
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2012
  • 卷号:55
  • 期号:9
  • 页码:350-353
  • DOI:10.3345/kjp.2012.55.9.350
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

  • 关键词:Becker muscular dystrophy; Early onset cardiomyopathy; Genotype
国家哲学社会科学文献中心版权所有