case_images: PMC11343627_01
case_images: Japanese case of familial TAAD presenting with aortic disease. (a) Dissection from the aortic root to the aortic arch as shown on contrast-enhanced computed tomography (sagittal cross section). The maximum diameter of the ascending aorta was 55 mm and the sinus of Valsalva was 36 mm. (b) Transesophageal echocardiogram reveals a flap in the aortic root and severe aortic insufficiency. (c, d) Histological analysis with Elastica van Gieson stain and Masson's trichrome stain in the ascending aorta of the patient (MT65) and a control undergoing heart transplant (MT21). Abundant vasa vasorum in the patient's adventitia was observed (blue arrowheads). (e, f) Immunostaining for phosphorylated ERK1/2 (p-ERK1/2) and phosphorylated Smad2 (p-Smad2) in the ascending aorta of the patient (MT65) and a control undergoing heart transplant (MT21). TAAD, thoracic aortic aneurysm and dissection; LA, left atrium; AV, aortic valve; LV, left ventricle; I, intima; M, media; A, adventitia.
case_images: CRIG2024-4281972.001.jpg
case_images: PMC11343627_01_CRIG2024-4281972.001.jpg
case_images: fig1
case_images: The maximum diameter of the ascending aorta increased to 55 mm compared to 3 months ago (Figure 1(a)). He was transferred to our university hospital, where he was immediately admitted for further evaluation, and transesophageal echocardiogram showed a false lumen at the aortic root and severe aortic insufficiency due to the enlargement of aortic valve ring (Figure 1(b)). The thickness of the ascending aortic wall was increased with elastic fiber degeneration and collagen deposition, and the number of vasa vasorum in the adventitia was increased compared to that in the control specimen from a heart transplant recipient (Figures 1(c) and 1(d)). Moreover, compared with the control, the phosphorylation levels of Smad2 in the adventitia and ERK1/2 in the media were significantly upregulated (Figures 1(e) and 1(f)), which suggests the activation of the transforming growth factor-beta (TGF-beta) signaling pathways in the patient.