Key result
Carbohydrate-deficient glycoprotein syndrome is linked to neonatal HOCM and pericardial effusions.
Why the study?
Hypertrophic obstructive cardiomyopathy can be a feature of carbohydrate-deficient glycoprotein syndrome, but its presentation and association require further characterization.
Case Report (n=1)
Hypertrophic obstructive cardiomyopathy can be a clinical feature of the severe form of carbohydrate-deficient glycoprotein syndrome in neonates.
Answers are grounded in this paper and cite their sources.
May prompt CDG evaluation in neonates with hypertrophic obstructive cardiomyopathy; leaves open prevalence and causality.
The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions.
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Clayton et al. (1992) conducted a case report in Carbohydrate-deficient glycoprotein (CDG) syndrome and hypertrophic obstructive cardiomyopathy (n=1). Carbohydrate-deficient glycoprotein (CDG) syndrome was evaluated on Development of hypertrophic obstructive cardiomyopathy (HOCM). Hypertrophic obstructive cardiomyopathy can be a clinical feature of the carbohydrate-deficient glycoprotein syndrome in neonates, in addition to pericardial effusions.
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