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

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.

journal_name

Pediatr Cardiol

journal_title

Pediatric cardiology

authors

Rudaks LI,Andersen C,Khong TY,Kelly A,Fietz M,Barnett CP

doi

10.1007/s00246-012-0214-y

subject

Has Abstract

pub_date

2012-06-01 00:00:00

pages

827-30

issue

5

eissn

0172-0643

issn

1432-1971

journal_volume

33

pub_type

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