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

Autor: Annette F. Baas, Wilko Spiering, Ingrid C M Beenakkers, Nine V A M Knoers, Steven V. Koenen, Evert-Jan Vonken, Dennis Dooijes, Joost A. van Herwaarden, Frans L. Moll, Jasper J. van der Smagt, Gertjan T. Sieswerda, Lieve Page-Christiaens
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Adult
Male
0301 basic medicine
Proband
medicine.medical_specialty
COL3A1
Clinical Decision-Making
030204 cardiovascular system & hematology
03 medical and health sciences
0302 clinical medicine
Aneurysm
Pregnancy
medicine.artery
medicine
Genetics
Journal Article
Humans
Genetics(clinical)
Superior mesenteric artery
Genetics (clinical)
Aged
business.industry
Vaginal delivery
Dissection
Abdominal aorta
Pregnancy Outcome
Disease Management
High-Throughput Nucleotide Sequencing
Gestational age
Middle Aged
medicine.disease
Magnetic Resonance Imaging
Collagen Type III/genetics
Pedigree
Surgery
Pregnancy Complications
Collagen Type III
Phenotype
030104 developmental biology
Mutation
Ehlers-Danlos Syndrome/diagnosis
Vascular Ehlers---Danlos Syndrome (vEDS)
Ehlers-Danlos Syndrome
Female
business
Delivery
Zdroj: American Journal of Medical Genetics. Part A, 173(2), 519-523. Wiley
American Journal of Medical Genetics. Part A, 173(2), 519. Wiley-Liss Inc.
ISSN: 1552-4825
Popis: 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. © 2016 Wiley Periodicals, Inc.
Databáze: OpenAIRE
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