Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Cardiovasc Pathol. 2012 Jul-Aug;21(4):240-4. doi: 10.1016/j.carpath.2011.09.004. Epub 2011 Oct 27.
Genetic diseases that affect the vasculature primarily affect the aortic root and ascending aorta. These conditions lead to aortic root dilatation, which, if not treated, will result in dissection and death. Often, aortic disease is just one manifestation of a syndrome with diverse findings. Some of these diseases were described over 100 years ago based on physical manifestations, and their causative genes are among the first described Mendelian causes of cardiovascular disease. Within the pediatric and young adult population, there are over 15 causes of ascending aortic disease. Previously, these diverse diseases, along with their histopathology, have been extensively characterized. Most genetic causes of root aneurysm are extremely rare. Amongst these, five diseases are relatively common with known genetic mutations for which pathologists should be familiar. These are Marfan syndrome, vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, and familial thoracic aneurysm and dissection. This review will focus on these important causes of genetic aortic disease. The aim is to briefly describe the historical record and physical manifestations and then focus on cardiovascular complications, the causative genes, and current research into these entities.
主要影响脉管系统的遗传性疾病会影响主动脉根部和升主动脉。这些病症会导致主动脉根部扩张，如果不加以治疗，将会导致夹层和死亡。通常，主动脉疾病只是具有多种表现的综合征的一种表现。其中一些疾病是基于临床表现在 100 多年前描述的，其致病基因是最早描述的孟德尔心血管疾病病因之一。在儿科和青年人群中，有超过 15 种导致升主动脉疾病的原因。以前，这些不同的疾病及其组织病理学特征已经得到了广泛的描述。大多数根部动脉瘤的遗传病因极为罕见。其中，有五种疾病相对常见，其已知的基因突变病理学家应该熟悉。这些疾病是马凡综合征、血管型埃勒斯-当洛斯综合征、洛伊兹-迪茨综合征、特纳综合征和家族性胸主动脉瘤和夹层。本综述将重点介绍这些遗传性主动脉疾病的重要病因。目的是简要描述病史和临床表现，然后重点介绍心血管并发症、致病基因以及对这些实体的当前研究。
