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A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
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  • A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
  • A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
저자명
Doo. Ki-Hyun,Ryu. Hye-Won,Kim. Seung-Soo,Lim. Byung-Chan,Hwang. Hui,Kim. Ki-Joong,Hwang. Yong-Seung,Chae. Jong-Hee
간행물명
Korean journal of pediatrics
권/호정보
2012년|55권 9호|pp.350-353 (4 pages)
발행정보
대한소아과학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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.