Background-Phase-contrast MRI with metric-optimized gating is a promising new technique for studying the distribution of the fetal circulation. However, mean and reference ranges for blood flow measurements made in the major fetal vessels using this technique are yet to be established. , 29 (7, 51). A strong inverse relationship between foramen ovale shunt and pulmonary blood flow was noted (r=−0.64; P<0.0001). Conclusions-Although too small a sample size to provide normal ranges, these results are in keeping with those predicted in humans based on measurements made in fetal lambs using radioactive microspheres and provide preliminary reference ranges for the late-gestation human fetuses. The wide range we found in foramen ovale shunting suggests a degree of variability in the way blood is streamed through the fetal circulation. (Circ Cardiovasc Imaging. 2014;7:663-670.)

Purpose Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene only explain a small number of X-linked TAAD families. Methods We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands. Subsequently, Sanger sequencing of BGN in 360 male and 155 female molecularly unexplained TAAD probands was carried out. Results We found five individuals with loss-of-function mutations in BGN, encoding the small leucine-rich proteoglycan biglycan. The clinical phenotype is characterized by early onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures and mild skeletal dysplasia. Fluorescent stainings revealed an increase in TGF-β signalling, evidenced by an increase in nuclear pSMAD2 in aortic wall. Our results are in line with prior reports demonstrating that Bgn-deficient male BALB/cA mice die from aortic rupture. Conclusion In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD, associated with preservation of elastic fibres and increased TGF-β signalling.

Virtually all North American pediatric cardiologists and cardiac surgeons surveyed discuss a surgical intervention when counseling parents about the care of their child or fetus with HLHS. However, only a minority discuss all options. Most physicians recommend staged palliative surgery for management of HLHS.