Familial acute aortic dissection associated with a novel ACTA2 germline variant

Figures

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  Fig. 1. A Computed tomography (CT) demonstrated the aortic dissection and the aneurysm of the ascending aorta and the aortic arch. B The aortic dissection reached down the descending aorta to the level of the mesenteric artery

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  Fig. 2. Representative examples of the histopathological changes in the thoracic aorta. A Diffuse intra-lamellar accumulation of extracellular mucoid matrix (H&E stain, ×100). B Elastica van Gieson (EvG) stain highlighting mild thinning and separation of elastic fibers. This finding, which is close to the normal pattern, is in line with the significant heterogeneity of the aortic wall damage characteristic of this disease (EvG stain, ×100). C More advanced/severe but still mainly intra-lamellar accumulation of extracellular mucoid matrix (H&E stain, ×200). D EvG stain of same field highlighting severe loss, separation, thinning, and fragmentation of the elastic fibers (EvG stain, ×200). E Both diffuse intra-lamellar and translamellar accumulation of extracellular mucoid matrix (H&E stain, ×200). F EvG highlighting the interruption of elastic fibers (EvG stain, ×100)

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  Fig. 3. A Section of the aortic wall showing the presence of blood/thrombus within the dissection (false lumen) (H&E stain, ×100). B Sections from grossly unremarkable aortic wall showed the interruption of the elastic fibers by multifocal old fibrous scars (EvG stain, ×200). C Focus of microhemorrhage within grossly normal-looking aortic wall, consistent with focal acute dissection (intramural hematoma) (H&E stain, ×200). D EvG highlighting the fibrosis surrounding ectatic vessels and hemorrhagic foci (EvG stain, ×200)

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  Fig. 4. Complete genetic family tree. The arrow marks our patient