Abstract：
Alagille syndrome is caused by mutations in genes involved in NOTCH signaling, specifically JAG1 and NOTCH2, and is associated with a high rate of peripheral pulmonary artery stenosis. In this study, we report the case of an infant with Alagille syndrome caused by a JAG1 mutation, who succumbed to acute exacerbation of right heart failure due to severe peripheral pulmonary artery stenosis. The autopsy revealed that the peripheral pulmonary arteries were significantly stenosed, exhibiting hypoplasia and thickened vessel walls. Histological examination of the pulmonary artery walls showed a decrease in smooth muscle cells in the tunica media and an increase in collagen and elastic fibers, although the intrapulmonary arteries were intact. These findings are important for understanding the pathogenesis of Alagille syndrome and developing treatment strategies for peripheral pulmonary artery stenosis.
摘要：
Alagille综合征是由参与NOTCH信号传导的基因突变引起的，特别是JAG1和NOTCH2，并且与外周肺动脉狭窄的高发率相关。在这项研究中,我们报道了一例由JAG1突变引起的Alagille综合征的婴儿，由于严重的周围肺动脉狭窄而死于右心衰竭的急性加重。尸检显示外周肺动脉明显狭窄,表现出发育不全和血管壁增厚。肺动脉壁的组织学检查显示，中膜平滑肌细胞减少，胶原蛋白和弹性纤维增加，尽管肺内动脉完好无损。这些发现对于理解Alagille综合征的发病机制和制定外周肺动脉狭窄的治疗策略具有重要意义。
