Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.

Supravalvular aortic stenosis (SVAS) has been well described in Williams-Beuren Syndrome and non-syndromic elastin (ELN) mutations. Non-syndromic ELN mutations are inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. ELN haploinsufficiency leads to progressive arteriopathy, typically affecting the aortic sinotubular junction. Multi-level pulmonary stenosis has also been reported and biventricular obstruction may portend a worse prognosis. Fetal presentation of ELN mutation with SVAS has not been previously reported in the literature. We present a case of fetal diagnosis of SVAS and multi-level pulmonary stenosis in a family with a known pathogenic ELN mutation (Exon 6, c.278del [p.Pro93Leufs*29]). On the fetus' initial fetal echo, there was only mild flow acceleration through the aortic outflow tract, however, she went on to develop progressive bilateral obstruction. In the early post-natal period, the child was clinically asymptomatic and showed similar mild SVAS and mild valvar and supravalvular pulmonary stenosis. Our case highlights the need for serial monitoring of fetuses with suspected or confirmed ELN arteriopathy.

In Utero Presentation of Left Ventricular Aneurysm.

Congenital left ventricular aneurysm, pseudoaneurysm, and diverticulum are rare entities. These diagnoses can be made pre- and/or postnatally. Although these entities overlap clinically and morphologically, important distinctions can allow for accurate diagnoses. Appropriate diagnosis can be imperative for risk stratification and guidance of prenatal and postnatal management. The case described in the present report highlights a challenging case of a fetal left ventricular aneurysm, management during the prenatal and postnatal periods, and important differentiating features from a ventricular diverticulum and pseudoaneurysm.

Chronic Maternal Hyperoxygenation and Effect on Cerebral and Placental Vasoregulation and Neurodevelopment in Fetuses with Left Heart Hypoplasia.

INTRODUCTION: In a pilot study of chronic maternal hyperoxygenation (CMH) in left heart hypoplasia (LHH), we sought to determine effect estimates of CMH on head size, vascular resistance indices, and neurodevelopment compared to controls. MATERIAL AND METHODS: Nine gravidae meeting the inclusion criteria (fetal LHH, ≥25.9 weeks' gestation, and ≥10% increase in percent aortic flow after acute hyperoxygenation) were prospectively enrolled. Controls were 9 contemporary gravidae with fetal LHH without CMH. Brain growth and Doppler-derived estimates of fetal cerebrovascular and placental resistance were blindly evaluated and compared using longitudinal regression. Postnatal anthropomorphic and neurodevelopmental assessments were compared. RESULTS: There was no difference in baseline fetal measures between groups. There was significantly slower biparietal diameter (BPD) growth in the CMH group (z-score change -0.03 ± 0.02 vs. +0.09 ± 0.05 units/week, p = 0.02). At 6 months postnatal age, the mean head circumference z-score in the CMH group was smaller than that of controls (-0.20 ± 0.58 vs. +0.85 ± 1.11, p = 0.048). There were no differences in neurodevelopmental testing at 6 and 12 months. DISCUSSION: In this pilot study, relatively diminished fetal BPD growth and smaller infant head circumference z-scores at 6 months were noted with in utero CMH exposure.

Economic and safety implications of introducing fast tracking in congenital heart surgery.

BACKGROUND: The feasibility of fast-tracking children undergoing congenital heart disease surgery has not been assessed adequately. Current knowledge is based on limited single-center experiences without contemporaneous control groups. METHODS AND RESULTS: We compared administrative data for atrial septal defect (ASD) and ventricular septal defect (VSD) surgeries in children 2 months to 19 years of age at the Mount Sinai Medical Center (MSMC) with data from comparable patients at 40 centers contributing to the Pediatric Health Information System. Three-year blocks, early in and after fast tracking had been implemented at the MSMC, were examined. Seventy-seven and 89 children at MSMC undergoing ASD and VSD closure, respectively, were compared with 3103 ASD and 4180 VSD patients nationally. With fast tracking fully implemented, median length of stay at the MSMC decreased by 1 day compared with the earlier era (length of stay, 1 and 3 days for ASD and VSD, respectively). Nationally, median length of stay remained unchanged (3 days for ASD and 4 days for VSD) in the observed time periods. Hospitalization costs fell by 33% and 35% at MSMC (ASD and VSD, respectively), whereas they rose by 16% to 17% nationally. When analyzed in multiple regression models, the decrease in both length of stay and cost remained significantly greater at MSMC compared with nationally (P<0.0001 for all). Hospital mortality and 2-week readmission rates were unchanged at MSMC between the 2 time periods and were not different from the national rates. CONCLUSION: Shorter length of stay and cost savings compared with national data were observed after implementation of fast tracking.