动静脉畸形是一种快-慢流速性病变,病变内动脉和静脉形成直接连接(动静脉瘘)或动脉与静脉之间的毛细血管床被“异常血管巢”所取代,其中许多动脉与引流静脉相连接并直接汇入引流静脉,伴有纤维化和肌层增厚。皮肤动静脉畸形呈红紫色,皮温增高,具有震颤。动静脉畸形在出生时即可存在或稍晚出现。有时无症状,但也可根据其大小和部位或因创伤、激素变化或不完全治疗而增大导致各种异常,包括局部变形和中枢神经系统或心血管系统症状。动静脉畸形在治疗上是最为复杂的发育畸形,因为不适当的治疗可加重病情。散发型动静脉畸形的遗传基础目前仍未明确,参与动静脉分化的分子如涉及Notch信号通路者被认为是最有可能的选项。正如前文在毛细血管畸形-动静脉畸形中所提及的,其中毛细血管畸形与动静脉畸形相关联,多种遗传型综合征的致病基因也已经被成功鉴定(图7-13至图7-17)。
图7-13 右面部动静脉畸形
图7-14 手指动静脉畸形
图7-15 手掌动静脉畸形
图7-16 口腔动静脉畸形
图7-17 动静脉畸形(血管壁不同程度增厚)
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