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.

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

“…The age of diagnosis of cardiomyopathy in reported cases ranged from the first week of life to 7 years of age, and in a few cases it was detected prenatally [2,25,31]. In addition, this is the first report of CDG from Saudi Arabia and it is likely that this condition is underdiagnosed in this region often due to poor access to appropriate metabolic and genetic testing.…”

“…Cardiomyopathy (hypertrophic and dilated) has been reported in PMM2-CDG [20-25], in ALG12-CDG [26], in DK1-CDG [27], and in COG7-CDG [28], as well as in a number of patients with an unexplained CDG (CDG-Ix and CDG-IIx) [4,21,29-33]. The age of diagnosis of cardiomyopathy in reported cases ranged from the first week of life to 7 years of age, and in a few cases it was detected prenatally [2,25,31].…”

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

“…Abnormal fat pads were reported in 11 of 23 patients. Six of them were hyperinsulinemic and five were normoinsulinemic …”

“…Six of them had hypothyroidism, two had decreased thyroxine levels and two had decreased thyroxine-binding globulin levels. [6][7][8][9][10][11][12] Abnormal fat pads were reported in 11 of 23 patients. Six of them were hyperinsulinemic and five were normoinsulinemic.…”

“…Six of them were hyperinsulinemic and five were normoinsulinemic. [7][8][9][10][11][13][14][15] As shown in Table 1, 7 of 10 patients with hyperinsulinism were successfully treated with oral diazoxide. One patient presented with refractory hyponatremia as a side effect of diazoxide.…”