Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies.
Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies.
复制标题
DOI：
10.1161/circresaha.121.319587
复制
发表时间：
2021-06-25
影响因子：
20.1
通讯作者：
Trivedi CM
中科院分区：
文献类型：
--
作者：
Janardhan HP;Saheera S;Jung R;Trivedi CM
血管畸形影响约 1%-1.5% 的人口，包括一系列毛细血管、动脉、静脉和/或淋巴管的发育模式缺陷。大多数血管畸形是偶发的；然而，遗传性畸形是复杂先天性疾病的一部分。这些畸形从胎记到危及生命的情况，在出生时就存在，但可能会在婴儿期、儿童期或成年期表现出体征和症状，包括疼痛、出血、毁容和重要器官的功能缺陷。由于缺乏治疗方法，血管畸形常常在受影响部位表现出复发性模式。该综述系列对基础、临床、遗传和转化水平的血管畸形研究进行了最先进的评估。
Vascular malformations, affecting ~1%-1.5% of the population, comprise a spectrum of developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The majority of vascular malformations occur sporadically; however, inherited malformations exist as a part of complex congenital diseases. The malformations, ranging from birthmarks to life-threatening conditions, are present at birth, but may reveal signs and symptoms – including pain, bleeding, disfigurement, and functional defects of vital organs – in infancy, childhood, or adulthood. Vascular malformations often exhibit recurrent patterns at affected sites due to the lack of curative treatments. This review series provides a state-of-the-art assessment of vascular malformation research at basic, clinical, genetic, and translational levels.