A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
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 muscula...
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2012-09-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-55-350.pdf |
| _version_ | 1828870830953594880 |
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| author | Ki Hyun Doo Hye Won Ryu Seung Soo Kim Byung Chan Lim Hui Hwang Ki Joong Kim Yong Seung Hwang Jong-Hee Chae |
| author_facet | Ki Hyun Doo Hye Won Ryu Seung Soo Kim Byung Chan Lim Hui Hwang Ki Joong Kim Yong Seung Hwang Jong-Hee Chae |
| author_sort | Ki Hyun Doo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T06:18:52Z |
| format | Article |
| id | doaj.art-b7609a16dd634deeab18d0dc85778370 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-13T06:18:52Z |
| publishDate | 2012-09-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-b7609a16dd634deeab18d0dc857783702022-12-21T23:56:54ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582012-09-0155935035310.3345/kjp.2012.55.9.3502012600041A case of Becker muscular dystrophy with early manifestation of cardiomyopathyKi Hyun Doo0Hye Won Ryu1Seung Soo Kim2Byung Chan Lim3Hui Hwang4Ki Joong Kim5Yong Seung Hwang6Jong-Hee Chae7Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Soonchunhyang University College of Medicine, Cheonan, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.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.http://kjp.or.kr/upload/pdf/kjped-55-350.pdfBecker muscular dystrophyEarly onset cardiomyopathyGenotype |
| spellingShingle | Ki Hyun Doo Hye Won Ryu Seung Soo Kim Byung Chan Lim Hui Hwang Ki Joong Kim Yong Seung Hwang Jong-Hee Chae A case of Becker muscular dystrophy with early manifestation of cardiomyopathy Korean Journal of Pediatrics Becker muscular dystrophy Early onset cardiomyopathy Genotype |
| title | A case of Becker muscular dystrophy with early manifestation of cardiomyopathy |
| title_full | A case of Becker muscular dystrophy with early manifestation of cardiomyopathy |
| title_fullStr | A case of Becker muscular dystrophy with early manifestation of cardiomyopathy |
| title_full_unstemmed | A case of Becker muscular dystrophy with early manifestation of cardiomyopathy |
| title_short | A case of Becker muscular dystrophy with early manifestation of cardiomyopathy |
| title_sort | case of becker muscular dystrophy with early manifestation of cardiomyopathy |
| topic | Becker muscular dystrophy Early onset cardiomyopathy Genotype |
| url | http://kjp.or.kr/upload/pdf/kjped-55-350.pdf |
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