Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.

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

Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F

Human Genetics Department, Galliera Hospital, Genova, Italy. valeria.viassolo@galliera.it

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.

Published 6 November 2006 in Prenat Diagn, 26(11): 1081-3.
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