Six uneventful pregnancy outcomes in an extended vascular Ehlers –Danlos syndrome family

Vascular Ehlers–Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy‐related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37‐year‐old woman, DNA‐analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c.980G>A; p. Gly327Asp). She had had three uneventful vaginal deliveries. At the time of diagnosis, her 33‐year‐old niece was 25 weeks pregnant. She had had one uneventful vaginal delivery. Targeted DNA‐analysis revealed that she was carrier of the COL3A1 mutation. Ultrasound detected an aneurysm in the abdominal aorta with likely a dissection. An uneventful elective cesarean section was performed at a gestational age of 37 weeks. The 40‐year‐old sister of our proband had had one uneventful vaginal delivery and an active pregnancy wish. Cascade DNA‐screening showed her to carry the COL3A1 mutation. Computed Tomography Angiography (CTA) of her aorta revealed a type B dissection with the most proximal entry tear just below the superior mesenteric artery. Pregnancy was therefore discouraged. This familial case illustrates the complexity a...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research