Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

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.

Citation

Laura I Rudaks, Chad Andersen, T Y Khong, Andrew Kelly, Michael Fietz, Christopher P Barnett. Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Pediatric cardiology. 2012 Jun;33(5):827-30

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PMID: 22374380

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