PMC3970455_01
Optiray contrast-enhanced computed tomography images of the chest with sagittal (a) and coronal (b) reconstructions in the 14-year-old proband revealing aneurysmal dilation of the ascending aorta.
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fig1
Computed tomography scan ruled out the presence of an aneurysmal rupture or dissection but revealed a fusiform aneurysmal dilatation of the ascending aorta with greatest dimensions of the ascending aorta of 4.1 cm (AP) x 4.4 cm (RL) (Figures 1(a) and 1(b)).
(a) Ascending aorta: medial fibrosis and dystrophic calcification (Hematoxylin and Eosin) and (b) fragmentation and disorganization of the elastic fibers (Verhoeff Van Gieson's elastic stain).
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fig2
Additionally, the aorta showed dystrophic calcification (Figures 2(a) and 2(b)).
PMC3970455_02
Sanger sequencing chromatogram revealing the pathogenic SMAD3 mutation, c.3G>A (p. Met1Ile) in the proband versus the normal sequence in a control.
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Met1Ile) (Figure 3).