Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
Pediatr Cardiol
; 33(5): 827-30, 2012 Jun.
Article
em En
| MEDLINE
| ID: mdl-22374380
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG-Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previously been reported in CDG-Ia. The second patient died at 2 months of age from HCM. The severe cardiac manifestations seen in our patients emphasize the importance of early cardiac assessment in all patients with CDG-Ia.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Hipertrófica
/
Tamponamento Cardíaco
/
Fosfotransferases (Fosfomutases)
/
Defeitos Congênitos da Glicosilação
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Ruptura Cardíaca
Limite:
Female
/
Humans
Idioma:
En
Revista:
Pediatr Cardiol
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Austrália