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 CD...

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Bibliographic Details
Published in:Pediatric cardiology 2012-06, Vol.33 (5), p.827-830
Main Authors: Rudaks, Laura I., Andersen, Chad, Khong, T. Y., Kelly, Andrew, Fietz, Michael, Barnett, Christopher P.
Format: Article
Language:English
Subjects:
Autopsy
Cardiac patients
Cardiac Surgery
Cardiac Tamponade - congenital
Cardiac Tamponade - diagnostic imaging
Cardiac Tamponade - genetics
Cardiology
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Hypertrophic - congenital
Cardiomyopathy, Hypertrophic - diagnostic imaging
Cardiomyopathy, Hypertrophic - genetics
Case Report
Congenital Disorders of Glycosylation - complications
Congenital Disorders of Glycosylation - genetics
Echocardiography
Fatal Outcome
Female
Genetic disorders
Heart Rupture - congenital
Heart Rupture - diagnostic imaging
Heart Rupture - genetics
Humans
Medicine
Medicine & Public Health
Mutation, Missense
Phosphotransferases (Phosphomutases) - genetics
Siblings
Vascular Surgery
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Summary: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.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-012-0214-y