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Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome
Author(s) -
Viassolo Valeria,
Lituania Mario,
Marasini Maurizio,
Dietz Harry,
Benelli Fabrizio,
Forzano Francesca,
Faravelli Francesca
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1565
Subject(s) - marfan syndrome , medicine , fetus , craniofacial , craniofacial abnormality , pregnancy , genetics , biology , psychiatry
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. Copyright © 2006 John Wiley & Sons, Ltd.