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

Annette F. Baas*, Wilko Spiering, Frans L. Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert Jan P A Vonken, Jasper J. van der Smagt, Nine V. Knoers, Steven V. Koenen, Joost A. van Herwaarden, Gertjan T J Sieswerda

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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 and challenges of reproductive decision-making in a potentially lethal condition as vEDS, and highlights the importance of a multidisciplinary approach. Moreover, it suggests that previous pregnancy-related risks of vEDS may be overestimated.

Original languageEnglish
Pages (from-to)519-523
Number of pages5
JournalAmerican Journal of Medical Genetics. Part A
Volume173
Issue number2
DOIs
Publication statusPublished - 1 Feb 2017

Keywords

  • COL3A1
  • aneurysm
  • delivery
  • dissection
  • pregnancy
  • vascular Ehlers­­–Danlos Syndrome (vEDS)

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