Successful outcome in pregnancy with arterial tortuosity syndrome.
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.


METHODS
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.


CONCLUSIONS
Optimal maternal, fetal and neonatal outcomes were obtained with comprehensive multidisciplinary care and close maternal and fetal surveillance.
Allen
Victoria M
VM
From the Departments of Obstetrics and Gynaecology, Medicine, Pediatrics, Anaesthesia, and Radiology, Dalhousie University, Halifax, Nova Scotia, Canada.
Horne
S Gabrielle
SG
Penney
Lynette S
LS
Rapchuk
Ivan L
IL
Brock
Jo-Ann K
JK
Thompson
Deborah L
DL
Stinson
Dora A
DA
D000328:Adult; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D005260:Female; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011256:Pregnancy Outcome; D013577:Syndrome; D014652:Vascular Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*
D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human