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

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• 作者：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 and Gertjan Tj. Sieswerda
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：173
• 期：2
• 页码：519-523
• 全文大小：1706K
• ISSN：1552-4833

文摘

Vascular Ehlers–Danlos Syndrome (vEDS) is caused by heterozygous mutations in m>COL3A1m> 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 m>COL3A1m> (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 m>COL3A1m> 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 m>COL3A1m> 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.