Carlson M, Silberbach M
Division of Pediatric Cardiology, Doernbecher Children's Hospital, Oregon Health & Science University, Oregon 97239-3098, USA.
J Med Genet. 2007 Dec;44(12):745-9. doi: 10.1136/jmg.2007.052019. Epub 2007 Sep 14.
Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrome. Particular attention was paid to the reporting of systemic hypertension (HTN) and congenital heart disease (CHD) which are known risk factors for aortic disease in the general population. In total, 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at a young age, 30.7 (range 4-64) years, which is significantly earlier than its occurrence in the general female population (68 years). Of the cases for which HTN and CHD were explicitly assessed, 15% had HTN alone, 30% had CHD alone and 34% had both. Importantly, in 11% of the cases, neither HTN nor CHD were identified, suggesting that TS alone is an independent risk factor for aortic dissection; however, the cases where no risk factors were identified were very poorly documented. Dissection in women with TS undergoing assisted reproductive techniques (ART) frequently resulted in death. The literature on aortic dissection in TS is sparse and most cases are poorly documented, making it difficult to establish firm guidelines regarding monitoring and treatment. A TS aortic dissection registry has been established to better determine the natural history and risk factors (http://www.tssus.org/readweb.asp?wid = 3092).
患有特纳综合征的女孩和女性有发生灾难性主动脉夹层和破裂的风险，但对于有风险者的临床特征描述并不充分。除了报告两例新病例外，我们还进行了电子检索，以确定所有报告的与特纳综合征相关的主动脉夹层病例。特别关注了系统性高血压（HTN）和先天性心脏病（CHD）的报告情况，这两种疾病在普通人群中是已知的主动脉疾病风险因素。1961年至2006年间共报告了85例特纳综合征患者发生主动脉夹层的病例。夹层发生的年龄较轻，为30.7岁（范围4 - 64岁），明显早于普通女性人群（68岁）。在明确评估了高血压和冠心病的病例中，15%仅患有高血压，30%仅患有先天性心脏病，34%两者都有。重要的是，在11%的病例中，既未发现高血压也未发现先天性心脏病，这表明仅特纳综合征本身就是主动脉夹层的一个独立风险因素；然而，未发现风险因素的病例记录非常不完善。接受辅助生殖技术（ART）的特纳综合征女性发生夹层常导致死亡。关于特纳综合征患者主动脉夹层的文献稀少，大多数病例记录不完善，因此难以制定关于监测和治疗的明确指南。已建立了一个特纳综合征主动脉夹层登记处，以更好地确定其自然病史和风险因素（http://www.tssus.org/readweb.asp?wid = 3092）。
