title: 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.
authors.affiliation: SA Clinical Genetics Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.
authors.forename: Laura I
authors.initials: LI
authors.lastname: Rudaks
authors.forename: Chad
authors.initials: C
authors.lastname: Andersen
authors.forename: T Y
authors.initials: TY
authors.lastname: Khong
authors.forename: Andrew
authors.initials: A
authors.lastname: Kelly
authors.forename: Michael
authors.initials: M
authors.lastname: Fietz
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Barnett
mesh_terms: D001344:Autopsy; D002305:Cardiac Tamponade / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000235:genetics*; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006341:Heart Rupture / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D035781:Siblings
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human