The clinical experience of childhood cardiomyopathy caused by inborn errors of metabolism in 11 cases
10.3969/j.issn.1000-3606.2014.05.016
- VernacularTitle:儿童代谢性心肌病11例诊治分析
- Author:
Jiao RAO
;
Yufen LI
;
Shushui WANG
;
Zhiwei ZHANG
;
Cheng ZHANG
;
Guohong ZENG
- Publication Type:Journal Article
- Keywords:
cardiomyopathy;
primary carnitine dificiency;
glycogen accumulation disease;
mucopolysaccharidosis;
child
- From:
Journal of Clinical Pediatrics
2014;(5):459-461
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To summarize the diagnosis and treatment of cardiomyopathy caused by inborn errors of metabo-lism (IEM). Methods The retrospective study included 11 cases diagnosed as metabolic cardiomyopathy through tandem mass spectrometry, activity of serum enzyme, detection of urine mucopolysaccharide and gene analysis from 2012 to 2013. Six cases were diagnosed as primary carnitine deficiency (PCD). Four cases were diagnosed as glycogen storage disease (GSD) and only 1 case was diagnosed as mucopolysaccharidosis. Six PCD cases received carnitine supplementation and anti-heart failure thera-py and received follow-up for 2-10 months. Other 5 cases received supportive treatment and follow-up. Results Patients with PCD recovered soon after treatment but other 5 cases have died within 5 months. Conclusion IEM is an important cause of chil-dren cardiomyopathy which varied in clinical manifestation, diagnosis, treatment and prognosis of different kinds of metabolic cardiomyopathy. Early diagnosis and treatment could be lifesaving for cardiomyopathy caused by IEM.
