Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/77667
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Type: Journal article
Title: Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia
Author: Rudaks, L.
Andersen, C.
Khong, T.
Kelly, A.
Fietz, M.
Barnett, C.
Citation: Pediatric Cardiology, 2012; 33(5):827-830
Publisher: Springer-Verlag
Issue Date: 2012
ISSN: 0172-0643
1432-1971
Statement of
Responsibility: 
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
RMID: 0020119372
DOI: 10.1007/s00246-012-0214-y
Appears in Collections:Paediatrics publications

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