A case of Becker muscular dystrophy with early manifestation of cardiomyopathy.
10.3345/kjp.2012.55.9.350
- Author:
Ki Hyun DOO
1
;
Hye Won RYU
;
Seung Soo KIM
;
Byung Chan LIM
;
Hui HWANG
;
Ki Joong KIM
;
Yong Seung HWANG
;
Jong Hee CHAE
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Becker muscular dystrophy;
Early onset cardiomyopathy;
Genotype
- MeSH:
Adolescent;
Biopsy;
Cardiomegaly;
Cardiomyopathies;
Cardiomyopathy, Dilated;
Dyspnea;
Dystrophin;
Electrocardiography;
Exons;
Genotype;
Heart Failure;
Humans;
Hypertrophy, Left Ventricular;
Muscles;
Muscular Dystrophy, Duchenne;
Nausea;
Phenotype;
Phosphotransferases;
Thorax
- From:Korean Journal of Pediatrics
2012;55(9):350-353
- CountryRepublic of Korea
- Language:English
-
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.
