title: Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.
abstract: Loeys-Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course. We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys-Dietz syndrome.
authors.affiliation: Human Genetics Department, Galliera Hospital, Genova, Italy. valeria.viassolo@galliera.it
authors.forename: Valeria
authors.initials: V
authors.lastname: Viassolo
authors.forename: Mario
authors.initials: M
authors.lastname: Lituania
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marasini
authors.forename: Harry
authors.initials: H
authors.lastname: Dietz
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Benelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Forzano
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009056:Mouth Abnormalities / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II