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Updated: Jun 21, 2026
Accurate and Simple Evaluation of Vascular Anastomoses in Monochorionic Placenta using Colored Dye
Published on: September 5, 2011
Successful outcome in pregnancy with arterial tortuosity syndrome
Victoria M Allen1, S Gabrielle Horne, Lynette S Penney
1From the Departments of Obstetrics and Gynaecology, Medicine, Pediatrics, Anaesthesia, and Radiology, Dalhousie University, Halifax, Nova Scotia, Canada.
Background:
Arterial tortuosity syndrome is a rare, autosomal recessive, severe, connective tissue disorder caused by a mutation in the SLC2A10 gene. We describe the pregnancy and delivery with this high-risk connective tissue disorder involving generalized abnormalities of the vasculature.
Case:
A woman with an undefined connective tissue disorder was referred for tertiary prenatal care. Diagnostic imaging demonstrated multiple pulmonary artery aneurysms and arterial tortuosity, consistent with a clinical diagnosis of arterial tortuosity syndrome. With a team considering all potential complications, a delivery plan was undertaken involving cesarean delivery and intensive perioperative and postpartum monitoring. The outcome was optimal for mother and neonate. Concurrent molecular testing demonstrated homozygosity for the SLC2A10 gene.
Conclusion:
Optimal maternal, fetal and neonatal outcomes were obtained with comprehensive multidisciplinary care and close maternal and fetal surveillance.
