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

Manzocchi Besson, Sara; Jastrow Meyer, Nicole; Bounameaux, Henri; La Scala, Giorgio; Calza, Anne-Marie; Yilmaz, Hasan; Righini, Marc Philip; Robert-Ebadi, Helia

doi:10.1024/0301-1526/a000770

Scientific article

Case report

English

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

ContributorsManzocchi Besson, Sara; Jastrow Meyer, Nicole; Bounameaux, Henri; La Scala, Giorgio; Calza, Anne-Marie; Yilmaz, Hasan; Righini, Marc Philip; Robert-Ebadi, Helia

Published inVASA, vol. 48, no. 3, p. 276-280

Publication date2019

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.

Keywords

Arteriovenous Malformations/genetics
Capillaries
Female
Humans
Mutation
Port-Wine Stain
Pregnancy
Pregnancy Complications
Cardiovascular/genetics
P120 GTPase Activating Protein/genetics
Arteriovenous malformations
Capillary malformation-arteriovenous malformation
Capillaries/abnormalities
Port-wine stain
Pregnancy
RASA1 protein

Affiliation

Research group

Citation (ISO format)

MANZOCCHI BESSON, Sara et al. Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature. In: VASA, 2019, vol. 48, n° 3, p. 276–280. doi: 10.1024/0301-1526/a000770

Article (Published version)

Identifiers

PID : unige:129119
DOI : 10.1024/0301-1526/a000770
PMID : 30526434

Commercial URLhttps://econtent.hogrefe.com/doi/10.1024/0301-1526/a000770

ISSN of the journal0301-1526

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

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