Cramer Jonathan W, Bartz Peter J, Simpson Pippa M, Zangwill Steven D
Medical College of Wisconsin, Milwaukee, WI, USA,
Pediatr Cardiol. 2014 Feb;35(2):253-60. doi: 10.1007/s00246-013-0766-5. Epub 2013 Aug 10.
Turner syndrome (TS), a genetic abnormality affecting 1 in 2,500 people, is commonly associated with congenital heart disease (CHD). However, the surgical outcomes for TS patients have not been well described. This study reviewed the spectrum of CHD in TS at the authors' center. The authors report outcomes after coarctation of the aorta (CoA) repair or staged palliation of hypoplastic left heart syndrome (HLHS) and then compare the surgical outcomes with those of non-TS patients undergoing like repair. This retrospective chart review was conducted at the Children's Hospital of Wisconsin from 1999 to 2011. Of the 173 patients with TS, 77 (44.5 %) were found to have CHD. Left-sided obstructive lesions were the most common. However, the spectrum of CHD was wide and included systemic and pulmonary venous abnormalities as well as abnormalities of the coronary arteries. In the comparative analysis of CoA repair, the TS patients younger than 60 days had longer aortic cross-clamp times (24 vs. 16 min; p = 0.001) and longer hospital stays (12 vs. 6 days; p ≤ 0.0001) than the non-TS patients. At the follow-up assessment after 8.8 ± 9.1 years, 17 % of the TS patients had hypertension, but no patient had required reintervention, and no deaths had occurred. Finally, three of the four TS patients with HLHS died within the first year. The spectrum of CHD within TS is wide and not limited to bicuspid aortic valve or CoA. Additionally, patients with TS undergoing CoA repair may have a more challenging early postoperative course but experience outcomes similar to those of non-TS patients. Finally, patients who have TS combined with HLHS remain a challenging population with generally poor survival.
特纳综合征（TS）是一种影响着两千五百人中一人的基因异常疾病，通常与先天性心脏病（CHD）相关。然而，TS患者的手术结果尚未得到充分描述。本研究回顾了作者所在中心TS患者的先天性心脏病谱。作者报告了主动脉缩窄（CoA）修复或左心发育不全综合征（HLHS）分期姑息治疗后的结果，然后将手术结果与接受类似修复的非TS患者进行比较。这项回顾性图表审查于1999年至2011年在威斯康星儿童医院进行。在173例TS患者中，77例（44.5%）被发现患有先天性心脏病。左侧阻塞性病变最为常见。然而，先天性心脏病谱很广，包括体静脉和肺静脉异常以及冠状动脉异常。在CoA修复的对比分析中，60日龄以下的TS患者主动脉交叉夹闭时间（24分钟对16分钟；p = 0.001）和住院时间（12天对6天；p≤0.0001）比非TS患者更长。在8.8±9.1年的随访评估中，17%的TS患者患有高血压，但没有患者需要再次干预，也没有死亡发生。最后，四名HLHS的TS患者中有三名在第一年内死亡。TS患者的先天性心脏病谱很广，不限于二叶式主动脉瓣或CoA。此外，接受CoA修复的TS患者术后早期病程可能更具挑战性，但结果与非TS患者相似。最后，患有TS合并HLHS的患者仍然是一个具有挑战性的群体，总体生存率较差。
