Severe coarctation of the aorta without a severely elevated echocardiographic pressure gradient: a case highlighting the importance of aortic Doppler flow profile.

An asymptomatic 5-year-old male was diagnosed with severe coarctation of the aorta despite normal peak flow velocity with pathology identified on the basis of Doppler flow profile.

Isolated Right Superior Cava Drainage to the Left Atrium: An Uncommon Etiology of Cyanosis.

Anomalous superior vena cava drainage is a rare congenital cardiac defect where the right superior vena cava anomalously drains into the left atrium causing a right to left shunt. We present a case of a 17-day-old male who presented with cyanosis without respiratory distress and was found to have a right superior vena cava draining anomalously into the left atrium.

Relationship between renal function and extracorporeal membrane oxygenation use: a single-center experience.

The effects of extracorporeal membrane oxygenation (ECMO) support on renal function in children with critical illness are unknown. The objective of this study was to investigate the impact of ECMO on renal function among children in different age groups. We performed a single-center retrospective observational study in critically ill children ≤ 18 years supported on ECMO for refractory cardiac or pulmonary failure (2006-2012). The patient population was divided into four age groups for the purpose of comparisons. The Acute Kidney Injury Network's (AKIN's) validated, three-tiered staging system for acute kidney injury was used to categorize the degree of worsening renal function. Data on patient demographics, baseline characteristics, renal function parameters, dialysis, ultrafiltration, duration of mechanical cardiac support, and mortality were collected. Comparisons of baseline characteristics, duration of mechanical cardiac support, and renal function were made between the four age groups. During the study period, 311 patients qualified for inclusion, of whom 289 patients (94%) received venoarterial (VA) ECMO, 12 (4%) received venovenous (VV) ECMO, and 8 (3%) received both VV and VA ECMO. A total of 109 patients (36%) received ultrafiltration on ECMO, 58 (19%) received hemodialysis, and 51 (16%) received peritoneal dialysis. There was a steady and sustained improvement in renal function in all age groups during the ECMO run, with the maximum and longest-sustained improvement occurring in the oldest age group. Proportions of patients in different AKIN stages remained similar in the first 7 days after ECMO initiation. We demonstrate that renal dysfunction improves early after ECMO support. Irrespective of the underlying disease process or patient age, renal function improves in children with pulmonary or cardiac failure who are placed on ECMO.

Alternative repair strategies for ductal-dependent tetralogy of fallot and short-term postoperative outcomes, a multicenter analysis.

Our aim was to evaluate postoperative morbidity and mortality following initial intervention, comparing primary repair versus palliative shunt in the setting of ductal-dependent tetralogy of Fallot. When neonatal surgical intervention is required, controversy and cross-center variability exists with regard to surgical strategy. The multicenter Pediatric Health Information System database was queried to identify patients with TOF and ductal-dependent physiology, excluding pulmonary atresia. Eight hundred forty-five patients were included-349 (41.3%) underwent primary complete repair, while 496 (58.7%) underwent initial palliation. Palliated patients had significantly higher comorbid diagnoses of genetic syndrome and coronary artery anomalies. Primary complete repair patients had significantly increased morbidity across a number of variables compared to shunt palliation, but mortality rate was equal (6%). Second-stage complete repair was analyzed for 285 of palliated patients, with median inter-stage duration of 231 days (175-322 days). In comparison to primary complete repairs, second-stage repairs had significantly decreased morbidity and mortality. However, cumulative morbidity was higher for the staged patients. Median adjusted billed charges were lower for primary complete repair ($363,554) compared to staged repair ($428,109). For ductal-dependent TOF, there is no difference in postoperative mortality following the initial surgery (6%) whether management involves primary repair or palliative shunt. Although delaying complete repair by performing a palliative shunt is associated with a shift of much of the morbidity burden to outside of the newborn period, there is greater total postoperative morbidity and resource utilization associated with the staged approach.

Timing of complete repair of non-ductal-dependent tetralogy of Fallot and short-term postoperative outcomes, a multicenter analysis.

OBJECTIVE: There is cross-center variability with regard to timing repair of non-ductal-dependent tetralogy of Fallot (TOF). We hypothesized that earlier repair in the neonatal period is associated with increased mortality and morbidity. METHODS: This was a retrospective analysis of the Pediatric Health Information System of tetralogy of Fallot patients undergoing complete repair from 2004 through 2010 between the ages of 1 day to younger than 19 years. Patients with pulmonary valve atresia, those who received prostaglandin during hospital admission, and those who underwent prior shunt palliation were excluded. RESULTS: A total of 4698 patients met our inclusion criteria, of whom 202 were younger than 30 days old (group A), 861 were 31 to 90 days old (group B), 1796 were 91 to 180 days old (group C), and 1839 were older than 180 days (group D). In-hospital mortality, intensive care unit length of stay, and total hospital length of stay were significantly higher in group A. Patients in group A had a significantly increased postoperative requirement for mechanical ventilation, intravenous blood pressure support, medical diuresis, extracorporeal membrane oxygenation, gastrostomy tube insertion, heart catheterization, and surgical revision. Significant institutional variability was noted for timing of TOF complete repair, with one third of the centers performing 75% of the repairs at younger than 30 days old. The institutional approach to timing TOF complete repair showed no relation to surgical volume. CONCLUSIONS: Across all centers analyzed, primary neonatal elective TOF repair (<30 days of age) is associated with significantly higher postoperative in-hospital morbidity and mortality, although a few centers have shown an ability to use this strategy with excellent survivability.

Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report.

INTRODUCTION: The pentalogy of Cantrell is rare clustering of congenital defects, first described by Cantrell and colleagues in 1958. The exact pathogenesis for the pentalogy remains unknown and no specific genetic abnormalities have been correlated; however, a failure of embryogenesis has been suspected. The microduplication of chromosome 15q21.3 (57,529,846 to 58,949,448) found in our patient with pentalogy of Cantrell has not been described previously. CASE PRESENTATION: We describe a case of a newborn Caucasian male baby with prenatally diagnosed pentalogy of Cantrell and a novel maternally inherited copy number variant detected by chromosome microarray analysis. Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2. CONCLUSION: Vital for retinoic acid synthesis during early development, ALDH1A2 has previously been demonstrated in animal models to have a strong association with congenital heart disease and diaphragmatic hernia, two key elements comprising pentalogy of Cantrell. It is possible that perturbation of retinoic acid levels during development secondary to this microduplication could underlie the pathology observed in the current case of pentalogy of Cantrell.