Molecular Medicine Program, University of Utah, Salt Lake City, Utah 84112, USA.
Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635.
Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation-arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations.
血管畸形是一种正常血管模式的破坏，在这种情况下，预期在输送血液的高压动脉和收集低压血液回流心脏的薄壁静脉之间存在毛细血管网络。在动静脉畸形的情况下，动脉或小动脉直接与静脉收集系统相连，绕过任何毛细血管床。临床后果源于破裂和出血、血流显著增加，或源于毛细血管功能丧失，如营养交换和过滤功能。这些畸形可以是散发性的，也可以是遗传性血管畸形综合征的一个组成部分。在这些和其他遗传性血管畸形综合征中，基因研究已经确定了参与血管形态发生和发育的蛋白质和途径。观察到的一个共同主题是，血管畸形是由于参与血管稳定性的途径中断而导致的。在这里，我们回顾了遗传性出血性毛细血管扩张症、毛细血管畸形-动静脉畸形、脑海绵状血管畸形和黏膜皮肤静脉畸形中涉及的血管畸形和途径。
