Daene Mathies, De Pauw Lore, De Meester Pieter, Troost Els, Moons Philip, Gewillig Marc, Rega Filip, Van De Bruaene Alexander, Budts Werner
Faculty of Medicine, Catholic University of Leuven, Leuven, Belgium.
Department of Cardiovascular Sciences, Leuven, Belgium.
Int J Cardiol Congenit Heart Dis. 2023 Mar 23;12:100452. doi: 10.1016/j.ijcchd.2023.100452. eCollection 2023 Jun.
Patients with Down Syndrome (DS) are frequently born with an atrioventricular septal defect (AVSD). Surgical repair of the defect aims to minimize mortality and morbidity. However, a surgical intervention, specifically in DS patients, is not without risk and a subgroup of patients underwent only conservative non-surgical treatment. Outcome data of these different approaches are scarce. The aim of this retrospective study was to compare the long-term outcome of DS patients with and without surgery for AVSD.
DS patients registered with AVSD in the hospital's database from January 1980 till December 2020 were selected. Patient characteristics, peri-operative if appropriate, and follow-up data were obtained from the medical files.
In total, 72 unrepaired (36 male, 50%) and 134 repaired patients (61 male, 46%) were included. After a maximum of 60 years of follow-up, the all-cause mortality was 45.8% and 17.1%, respectively. Thirty-six percent and 13%, respectively, were labeled as non-cardiovascular death. Mean survival time for unrepaired AVSD was 40.7 years (95% CI 36.1-45.2) and for repaired AVSD 38.5 years (95% CI 35.3-41.6) (Log rank p = 0.465). However, the survival rate 35 years after birth was 62.1% for unrepaired patients versus 81.7% for repaired patients. Mortality rates were the highest the first months after surgical repair.
The mean survival rate of Down patients, born with an AVSD, did not differ between repair or not. However, long-term survival rate was higher in patients who underwent surgical repair. Mortality was highest the first months after surgery.
唐氏综合征（DS）患者常伴有房室间隔缺损（AVSD）出生。该缺损的手术修复旨在将死亡率和发病率降至最低。然而，手术干预，尤其是对DS患者而言，并非没有风险，部分患者仅接受了保守的非手术治疗。关于这些不同治疗方法的结果数据较为匮乏。本回顾性研究的目的是比较接受和未接受AVSD手术的DS患者的长期预后。
选取1980年1月至2020年12月在医院数据库中登记的患有AVSD的DS患者。从病历中获取患者特征、围手术期（如适用）及随访数据。
共纳入72例未接受修复的患者（36例男性，占50%）和134例接受修复的患者（61例男性，占46%）。经过最长60年的随访，全因死亡率分别为45.8%和17.1%。分别有36%和13%被归类为非心血管死亡。未修复AVSD的平均生存时间为40.7年（95%可信区间36.1 - 45.2），修复AVSD的平均生存时间为38.5年（95%可信区间35.3 - 41.6）（对数秩检验p = 0.465）。然而，出生后35年未修复患者的生存率为62.1%，修复患者为81.7%。手术修复后的头几个月死亡率最高。
患有AVSD的唐氏综合征患者的平均生存率在是否修复之间没有差异。然而，接受手术修复的患者长期生存率更高。手术后的头几个月死亡率最高。
