title: Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a.
abstract: We present the antenatal cardiac findings in an infant in whom a postnatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) was confirmed. The antenatal findings at 34 weeks' gestation included biventricular cardiac hypertrophy with pericardial effusion, multiple skeletal anomalies and cerebral ventricular dilatation. A severe CDG-Ia multisystem clinical phenotype evolved in the postnatal period, with the infant succumbing at 3.5 weeks of age secondary to a large pericardial effusion with tamponade. A literature review suggests that this is the first case of cardiac manifestations of CDG-Ia observed antenatally. We would also like to suggest that CDG-Ia should be considered and if possible prenatal diagnosis performed in cases with hypertrophic cardiomyopathy, and/or pericardial effusion.
authors.affiliation: Department of Neonatology, Monash Medical Centre, Melbourne, Victoria, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Malhotra
authors.forename: A
authors.initials: A
authors.lastname: Pateman
authors.forename: R
authors.initials: R
authors.lastname: Chalmers
authors.forename: D
authors.initials: D
authors.lastname: Coman
authors.forename: S
authors.initials: S
authors.lastname: Menahem
mesh_terms: D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D005333:Fetus / Q000002:abnormalities*; D006031:Glycosylation; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal