A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
- Abstract
- 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.
- All Author(s)
- K.-H. Doo
; H.-W. Ryu
; S.-S. Kim
; B.-C. Lim
; H. Hwang
; K.-J. Kim
; Y.-S. Hwang
; J.-H. Chae
- Issued Date
- 2012
- Type
- Article
- Keyword
- Becker muscular dystrophy|Early onset cardiomyopathy; Genotype
- Publisher
- 대한소아청소년과학회
- ISSN
- 0560-3560
; 1738-1061
; 2092-7258
; 2713-4148
- Citation Title
- Korean Journal of Pediatrics
- Citation Volume
- 55
- Citation Number
- 9
- Citation Start Page
- 350
- Citation End Page
- 353
- Language(ISO)
- eng
- DOI
- 10.3345/kjp.2012.55.9.350
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/1118
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