Cuoco Joshua A, Hoehmann Christopher L, Hitscherich Kyle, Zakhary Sherry M, Leheste Joerg R, Torres German
Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York.
Department of Anatomy, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York.
Anat Rec (Hoboken). 2017 Nov;300(11):1973-1980. doi: 10.1002/ar.23643. Epub 2017 Jul 21.
Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease. We also propose that brain arteriovenous malformations might share certain signaling dimensions with those of anorectal hemorrhoids. This working hypothesis provides casual anchors from which to understand vascular diseases characterized by arteriovenous lesions with a hemorrhagic- or bleeding-risk component. Anat Rec, 2017. © The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. Anat Rec, 300:1973-1980, 2017. © 2017 The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.
患有脑动静脉畸形的患者有颅内出血的风险。这些畸形常在遗传性血管疾病如遗传性出血性毛细血管扩张症中出现。然而，脑内的畸形也会偶尔发生，并无遗传编码成分。在此，我们回顾了关于动静脉畸形病理生理学的最新见解，特别是某些可能是内皮细胞病变基础的信号通路。为了更好地解释脑动静脉畸形的起源、决定因素和后果，我们展示了一个临床病例来说明该疾病的表型情况。我们还提出，脑动静脉畸形可能与肛门直肠痔有某些共同的信号维度。这一工作假设为理解以具有出血或出血风险成分的动静脉病变为特征的血管疾病提供了因果关联。《解剖学记录》，2017年。©作者。由威利期刊公司代表美国解剖学家协会出版的《解剖学记录》。《解剖学记录》，300:1973 - 1980，2017年。©2017作者。由威利期刊公司代表美国解剖学家协会出版的《解剖学记录》
