Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome

Valeria Viassolo, Mario Lituania, Maurizio Marasini, Harry Dietz, Fabrizio Benelli, Francesca Forzano, Francesca Faravelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1081-1083
Number of pages3
JournalPrenatal Diagnosis
Volume26
Issue number11
DOIs
StatePublished - Nov 1 2006

Keywords

  • Aneurysm
  • Aortic root dilatation
  • Loeys-Dietz
  • Prenatal Diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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