Cecchi F, Samoun M, Santoro G, Calamai G
Service de cardiologie, hôpital Meyer, Florence, Italie.
Arch Mal Coeur Vaiss. 1992 Jul;85(7):1043-6.
Turner's syndrome is a genetic abnormality which is associated with cardiovascular anomaly in 20% of cases. Coarctation of the aorta and bicuspid aortic valve are the commonest malformations. Aortic dissection is the most serious complication affecting these patients. The authors report the case of chronic aortic dissection of the ascending and transverse aorta in a 27 year old patient with Turner's syndrome. The dissection was diagnosed on angiography. Transthoracic echocardiography showed aneurysmal dilatation of the aortic root. Surgical treatment consisted in replacement of ascending and transverse aorta with a Dacron tube. The anatomopathological analysis showed cystic medianecrosis of the aortic wall. The immediate postoperative evolution was satisfactory. The long-term outcome with a 4 year follow-up was excellent from the clinical and echocardiographic point of view. Turner's syndrome is probably associated with a congenital abnormality of the connective tissue especially of the elastic fibres of the aortic wall, explaining the development, though rare, of aneurysmal dilatation of the ascending and transverse aorta and dissection. These patients should be followed up regularly clinically and by transthoracic echocardiography. Other investigations such as transoesophageal echocardiography, magnetic resonance imaging and angiography are indicated when aortic dilatation, aortic regurgitation or chest pain suggesting aortic dissection are observed.
特纳综合征是一种基因异常疾病，20%的病例伴有心血管异常。主动脉缩窄和二叶式主动脉瓣是最常见的畸形。主动脉夹层是影响这些患者的最严重并发症。作者报告了一名27岁特纳综合征患者发生升主动脉和横主动脉慢性夹层的病例。夹层通过血管造影诊断。经胸超声心动图显示主动脉根部瘤样扩张。手术治疗包括用涤纶血管替换升主动脉和横主动脉。解剖病理学分析显示主动脉壁囊性中层坏死。术后即刻病情进展令人满意。从临床和超声心动图角度来看，4年随访的长期结果非常好。特纳综合征可能与结缔组织尤其是主动脉壁弹性纤维的先天性异常有关，这解释了升主动脉和横主动脉瘤样扩张及夹层虽罕见但仍会发生的原因。这些患者应定期进行临床和经胸超声心动图随访。当观察到主动脉扩张、主动脉反流或提示主动脉夹层的胸痛时，需进行其他检查，如经食管超声心动图、磁共振成像和血管造影。
