目的：本研究旨在评估合并肺动脉瓣狭窄（Pulmonary valve stenosis, PS）和异位心的先天性矫正型大动脉转位（Congenitally corrected transposition of the great arteries, ccTGA）患者的治疗策略、中期结果以及影响预后的风险因素，以及评估成年之前未接受手术治疗ccTGA成人患者的自然病程和治疗效果。

方法：本研究回顾性分析了两部分ccTGA患者的数据。第一章笔者纳入了从2011年10月至2018年3月在阜外医院行手术治疗的74例ccTGA伴PS和异位心的患者，其中33例接受了一个半心室修复术（hemi-Mustard术+双向Glenn术+Rastelli术），41例接受了Fontan手术。第二章笔者纳入了从2009年10月至2018年1月117名未在成年前接受手术治疗的ccTGA患者，并根据室间隔完整状况分为三组：室间隔完整（ccTGA/IVS）组、室间隔缺损（ccTGA/VSD）组和室间隔缺损伴肺动脉瓣狭窄（ccTGA/VSD/PS）组。所有患者均进行了全面的临床评估和术后随访。

结果：在一个半心室修复术与Fontan手术的对比中，笔者发现Fontan组患者在体外循环时间、机械通气时间和ICU时间方面明显短于一个半心室组患者，但Fontan组在围术期更常出现迁延性胸腔积液。在术后7年的随访中，一个半心室组患者在存活率和免于再干预的概率上低于Fontan组患者，但差异无统计学意义。在心功能方面，一个半心室组患者的体循环心室射血分数（Systemic ventricular ejection fraction, SVEF）更高，中度以上体循环房室瓣（Systemic atrioventricular valve, SAVV）返流更少，且6分钟步行距离表现更佳，结果具有统计学意义。对于117名ccTGA成人患者进行分析，笔者发现首次就诊时ccTGA/VSD/PS组患者相比于其他两组患者的SAVV返流程度最低，SVEF最高。117名ccTGA成人患者中49人进行了手术矫治，68人未进行手术矫治。亚组分析发现，ccTGA/IVS组患者行体循环心室房室瓣置换/成形术后，显著改善体循环心室功能，降低死亡和移植的风险。然而，ccTGA/PS组患者接受生理性矫治手术后，SVEF显著降低。此外，笔者的研究显示，重度体循环心室房室瓣返流、生理性矫治手术和体循环心室功能障碍是临床不良事件的重要风险因素。

结论：对于ccTGA患者的治疗，应根据其具体情况选择合适的手术策略。一个半心室修复术在术后中期患者的体循环心室心功能和运动耐力方面表现更佳，而Fontan手术在缩短术后恢复时间方面具有显著优势。在成年ccTGA患者中，PS对SAVV返流和体循环心室功能障碍具有保护作用，而体循环心室房室瓣置换/成形术能显著改善伴有室间隔完整的ccTGA患者的体循环心室功能。严重SAVV返流和体循环心室功能障碍应作为治疗决策和风险评估的重要参考。

Objective: This study aims to evaluate the treatment strategies, intermediate outcomes, and risk factors affecting prognosis in patients with congenitally corrected transposition of the great arteries (ccTGA) with pulmonary valve stenosis and ectopic heart, and to assess the natural course and treatment outcomes in adults with ccTGA who have not undergone surgery before adulthood.

Methods: This study retrospectively analyzed two segments of ccTGA patient data. In Chapter 1, we included 74 patients with ccTGA with PS and ectopic heart who underwent surgical treatment at Fuwai hospital from October 2011 to March 2018, of whom 33 underwent the one-and-a-half ventricular repair (hemi-Mustard and bidirectional Glenn procedures combined with the Rastelli procedure) and 41 underwent Fontan surgery. In Chapter 2, we included 117 patients with ccTGA who were not surgically treated before adulthood from October 2009 to January 2018 and divided them into three groups based on the intact status of the interventricular septum: Ventricular septal integrity (ccTGA/IVS) group, ventricular septal defect (ccTGA/VSD) group and ventricular septal defect with pulmonary valve stenosis (ccTGA/VSD/PS) group. All patients underwent comprehensive clinical evaluation and postoperative follow-up.

Results: We found that patients in the Fontan group had significantly shorter cardiopulmonary bypass time, mechanical ventilation time, and ICU time than those in the one-and-a-half ventricular repair group. However, persistent pleural effusion was more common in the Fontan group during perioperative period. In the 7-year follow-up after surgery, the survival rate and the probability of avoiding further intervention were lower in the one-and-a-half ventricular repair group than in the Fontan group, but the difference was not statistically significant. In terms of cardiac function, the one-and-a-half ventricular repair group had a higher systemic ventricular ejection fraction and less moderate to severe systemic atrioventricular valve regurgitation, and a longer 6-minute walk distance, which were statistically significant. We analyzed data from 117 adult patients with ccTGA and found that those in the ccTGA/VSD/PS group had the lowest degree of systemic atrioventricular valve regurgitation and the highest systemic ventricular ejection fraction at initial presentation compared to the other two groups. Of the 117 adult patients with ccTGA, 49 underwent surgical correction, while 68 did not. Subgroup analysis revealed that patients in the ccTGA/IVS group experienced significant improvement in systemic ventricular function and a reduction in mortality and transplant risk following surgical correction of systemic atrioventricular valve replacement/ valvuloplasty. However, patients in the ccTGA/PS group experienced a significant reduction in systemic ventricular ejection fraction following physiologic corrective surgery. Additionally, our study showed that severe systemic atrioventricular valve regurgitation, physiologic corrective surgery, and systemic ventricular dysfunction are important risk factors for clinical adverse events.

Conclusion:

In the treatment of patients with ccTGA, the appropriate surgical strategy should be selected based on their individual circumstances. The one-and-a-half ventricular repair procedure demonstrates better performance in postoperative mid-term systemic ventricular cardiac function and exercise tolerance, while the Fontan operation has a significant advantage in shortening the recovery time. In adult ccTGA patients, PS has a protective effect on systemic atrioventricular valve regurgitation and systemic ventricular dysfunction. Systemic atrioventricular valve replacement/valvuloplasty can significantly improve systemic ventricular function in patients with intact ventricular septum. Severe systemic atrioventricular valve regurgitation and systemic ventricular dysfunction should be an important reference for treatment decision-making and risk assessment.