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|Title:||Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia|
|Citation:||Pediatric Cardiology, 2012; 33(5):827-830|
|Laura I. Rudaks, Chad Andersen, T. Y. Khong, Andrew Kelly, Michael Fietz, Christopher P. Barnett|
|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.|
|Keywords:||CDG-Ia; Hypertrophic cardiomyopathy; Cardiac rupture; Cardiac tamponade|
|Rights:||© Springer Science+Business Media, LLC 2012|
|Appears in Collections:||Paediatrics publications|
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