Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-10-9
pubmed:abstractText
Loeys-Dietz syndrome is a syndrome caused by heterozygous mutations in the genes encoding type 1 or 2 transforming growth factor-beta receptor (TGF-beta-R1/2). The obstetrical manifestations are risk of rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period, and damage to the vagina, perineum and the colon. We describe, for the first time, a new TGF-beta-R2 gene mutation in a family with several individuals who either had aortic rupture and dissection, sudden death or aortic root dilatation. The pregnancy was followed up and the baby was successfully delivered by a cesarean section at 34 weeks of gestation. The mother's recovery was uneventful and the baby was negative for the mutation on postnatal molecular testing. With appropriate supervision and early delivery by cesarean section, women with Loeys-Dietz syndrome can tolerate pregnancy and delivery without any adverse effect.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1421-9964
pubmed:author
pubmed:copyrightInfo
2009 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
35-7
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation.
pubmed:affiliation
Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. gutguy10@yahoo.com
pubmed:publicationType
Journal Article, Review, Case Reports