Case report
Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome

https://doi.org/10.1016/j.athoracsur.2015.05.045Get rights and content

We report the case of an 11-year-old boy with Loeys-Dietz syndrome, with both aortic and pulmonary aneurysms requiring cardiac operation because of progressive valve incompetence resulting from loss of coaptation of the cusps. Arterial medial changes, consisting of disarray of elastic fibers and increased collagen deposition, were observed in surgical specimens from both the aorta and the pulmonary artery of our patient, and the strong pSmad2 nuclear staining of smooth muscle cells of both aortic and pulmonary tunica media are the best evidence of transforming growth factor-β pathway activation in Loeys-Dietz syndrome.

Section snippets

Comment

Loeys-Dietz syndrome is a rare autosomal-dominant genetic disorder characterized by cardiovascular, skeletal, and cutaneous manifestations [1]. The vascular phenotype, with aneurysms and tortuosity, is not limited to the aortic root, and lifelong serial imaging of the entire arterial tree, both systemic and pulmonary, is mandatory. As in the natural history of aortic root aneurysm, progressive pulmonary artery dilatation with lack of coaptation of the central cusps can lead to pulmonary

References (4)

There are more references available in the full text version of this article.
View full text
Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.