Lin A E, Lippe B M, Geffner M E, Gomes A, Lois J F, Barton C W, Rosenthal A, Friedman W F
J Pediatr. 1986 Nov;109(5):820-6. doi: 10.1016/s0022-3476(86)80700-4.
We report two patients with Turner syndrome who had aortic dissection and rupture, one with prior repair of coarctation. We also note the high incidence (8.8%) of unrecognized aortic root dilation in a group of 57 patients with Turner syndrome whom we prospectively evaluated by echocardiography. Our analysis and review of previously reported cases suggests that multiple risk factors may exist for aortic dissection, including coarctation, bicuspid aortic valve, and systemic hypertension, but that these need not be present. Aortic root dilation may be an additional finding that suggests the patient with Turner syndrome is also at risk. When it is present, magnetic resonance imaging visualizes the entire aorta and allows quantification of the site and degree of dilation. In patients with dissection, the aorta often exhibits pathologic evidence of cystic medial necrosis similar to the finding in patients with Marfan syndrome. Therapeutic methods to decrease risk, such as those directed toward prevention of bacterial endocarditis, blood pressure control, and perhaps prophylactic beta blockade or surgical reconstruction, may need to be considered. Patients with Turner syndrome, their families, and the physicians who care for them should be aware of the significance of unexplained chest pain, dyspnea, or hypotension as potential manifestations of aortic dissection or rupture.
我们报告了两名患有特纳综合征且发生主动脉夹层和破裂的患者，其中一名之前接受过缩窄修复术。我们还注意到，在一组57例通过超声心动图进行前瞻性评估的特纳综合征患者中，未被识别的主动脉根部扩张发生率很高（8.8%）。我们对先前报道病例的分析和回顾表明，主动脉夹层可能存在多种危险因素，包括缩窄、二叶式主动脉瓣和系统性高血压，但这些因素不一定都存在。主动脉根部扩张可能是另一个表明特纳综合征患者也存在风险的发现。当出现这种情况时，磁共振成像可显示整个主动脉，并能对扩张的部位和程度进行量化。在发生夹层的患者中，主动脉常表现出与马方综合征患者相似的囊性中层坏死的病理证据。可能需要考虑降低风险的治疗方法，如针对预防细菌性心内膜炎、控制血压以及或许进行预防性β受体阻滞剂治疗或手术重建等方法。特纳综合征患者及其家属以及照料他们的医生应意识到不明原因的胸痛、呼吸困难或低血压作为主动脉夹层或破裂潜在表现的重要性。
