Extubation on the operating table in patients with right ventricular pressure overload undergoing biventricular repair†.

OBJECTIVES: Right ventricular pressure overload, which can result in restrictive right ventricular physiology, predicts slow recovery after biventricular repair of congenital heart defects. The goal of the study was to assess how extubation in the operating room influences the postoperative course in these patients. METHODS: Between January 2013 and June 2017, a total of 65 children [median age 0.96 (0.13-9.47) years; median weight 8 (3.05-25.8) kg] with right ventricular pressure overload underwent an intracardiac correction. The most common malformations were tetralogy of Fallot (n = 34) and double outlet right ventricle with pulmonary stenosis (n = 11). The patients were divided into 2 groups: the first (n = 36) comprised late extubated (LE) and the second (n = 29), early extubated (EE) children, immediately after chest closure in the operating room. Preoperative, perioperative and postoperative records were analysed retrospectively. RESULTS: Children who had EE had a lower heart rate (EE 124.2 vs LE 133.6 bpm; P = 0.03), higher arterial blood pressure (systolic: EE 87.9 ± 9.35 vs LE 81.4 ± 12.0 mmHg; P = 0.029; diastolic: EE 51.1 ± 6.5 vs LE 45.9 ± 6.64 mmHg; P = 0.003), lower central venous pressure (EE 8.6 ± 1.89 mmHg vs LE 9.9 ± 2.42 mmHg; P = 0.03), fewer pleural effusions in the first 6 postoperative days (EE 1.38 ml/kg/day vs LE 5.98 ml/kg/day; P = 0.009), shorter time of dopamine support ≥3 µg/kg (EE 7.29 ± 12.26 h vs LE 34.78 ± 38.05 h, P < 0.001), shorter stays in the intensive care unit (EE 2.7 ± 2.67 vs LE 5.0 ± 4.77 days, P = 0.001) and hospital (EE 11.8 ± 4.79 vs LE 15.5 ± 7.8 days; P = 0.022). CONCLUSIONS: Extubation in the operating room of children with right ventricular pressure overload undergoing biventricular correction is feasible and safe and has a beneficial effect on the postoperative course.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

BACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest. METHODS: Homozygosity mapping followed by whole-exome sequencing was used to identify a mutation in the gene for phosphoglucomutase 1 (PGM1) in two siblings. Sequencing identified additional mutations in 15 other families. Phosphoglucomutase 1 enzyme activity was assayed on cell extracts. Analyses of glycosylation efficiency and quantitative studies of sugar metabolites were performed. Galactose supplementation in fibroblast cultures and dietary supplementation in the patients were studied to determine the effect on glycosylation. RESULTS: Phosphoglucomutase 1 enzyme activity was markedly diminished in all patients. Mass spectrometry of transferrin showed a loss of complete N-glycans and the presence of truncated glycans lacking galactose. Fibroblasts supplemented with galactose showed restoration of protein glycosylation and no evidence of glycogen accumulation. Dietary supplementation with galactose in six patients resulted in changes suggestive of clinical improvement. A new screening test showed good discrimination between patients and controls. CONCLUSIONS: Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. Supplementation with galactose leads to biochemical improvement in indexes of glycosylation in cells and patients, and supplementation with complex carbohydrates stabilizes blood glucose. A new screening test has been developed but has not yet been validated. (Funded by the Netherlands Organization for Scientific Research and others.).