Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

Abstract

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.

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate‐deficient glycoprotein syndrome

“…Additional manifestations include pericardial effusion, ascites, coagulation defects, severe infections, enlarged kidneys, stroke-like episodes and seizures. Rarely nephrofic syndrome or cardiomyopathy in the newborn period are described (Clayton et al 1992;Van der Knaap et al 1994).…”

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

“…Hypertrophic obstructive cardiomyopathy is a known complication of CDG-Ia [2] and can be lifethreatening due to the occurrence of sudden arrhythmia and/or myocardial ischaemia [1]. In our patient, nonobstructive HCM was mainly restricted to an asymmetrical thickening of the interventricular septum just below the left-ventricular outflow tract with a mild gradient of 20 mm Hg at rest.…”

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

“…Osteosclerosis of the femora and tibiae with narrow medullary cavities was observed in 1 patient, and in another patient bone-in-bone appearance of the skeleton with flaring of the iliac wings and sloping acetabular roofs was documented. 6,7 The patient described by Garel et al 8 had extensive bone abnormalities suggestive of a form of dysostosis multiplex. In our patient, the most striking feature was the spinal stenosis with myelopathy, caused by atlantoaxial subluxation and a thickened ligament.…”