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https://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 |
DOI: | 10.1007/s00246-012-0214-y |
Published version: | http://dx.doi.org/10.1007/s00246-012-0214-y |
Appears in Collections: | Aurora harvest Paediatrics publications |
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