Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy – a case report and review of the literature

Author:

Manzocchi Besson Sara1,Jastrow Meyer Nicole2,Bounameaux Henri1,La Scala Giorgio C.3,Calza Anne-Marie4,Yilmaz Hasan5,Righini Marc1,Robert-Ebadi Helia1

Affiliation:

1. Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland

2. Department of Obstetrics and Gynecology, University Hospitals and Faculty of Medicine, Geneva, Switzerland

3. Division of Pediatric Surgery, Department of Pediatrics, University Hospitals and Faculty of Medicine, Geneva, Switzerland

4. Division of Dermatology and Venerology, University Hospitals and Faculty of Medicine, Geneva, Switzerland

5. Division of Imaging and Medical Information Science, University Hospitals and Faculty of Medicine, Geneva, Switzerland

Abstract

Abstract. Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein

Publisher

Hogrefe Publishing Group

Subject

Cardiology and Cardiovascular Medicine

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