A case of Becker muscular dystrophy with early manifestation of cardiomyopathy / 소아과
Korean Journal of Pediatrics
;
: 350-353, 2012.
Article
in English
| WPRIM
| ID: wpr-175378
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Phosphotransferases
/
Thorax
/
Biopsy
/
Cardiomyopathy, Dilated
/
Exons
/
Dystrophin
/
Hypertrophy, Left Ventricular
/
Cardiomegaly
/
Muscular Dystrophy, Duchenne
Limits:
Adolescent
/
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS