Johns Hopkins University School of Nursing, Baltimore, MD.
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Children's Healthcare of Atlanta, Atlanta, GA.
J Pediatr. 2021 Apr;231:246-253.e3. doi: 10.1016/j.jpeds.2020.12.058. Epub 2020 Dec 24.
To evaluate long-term transplant-free survival and causes of death in the trisomy 21 (T21) population after surgery for congenital heart disease (CHD) in comparison with patients who are euploidic.
This is a retrospective cohort study from the Pediatric Cardiac Care Consortium, enriched with prospectively collected data from the National Death Index and the Organ Procurement and Transplantation Network for patients with sufficient direct identifiers. Kaplan-Meier survival plots were generated and multivariable Cox proportional hazards models were used to examine risk factors for mortality between patients with T21 and 1:1 matched patients with comparable CHD who are euploidic.
A long-term survival analysis was completed for 3376 patients with T21 (75 155 person-years) who met inclusion criteria. The 30-year survival rate for patients with T21 ranged from 92.1% for ventricular septal defect to 65.3% for complex common atrioventricular canal. Of these, 2185 patients with T21 were successfully matched with a patient who was euploidic. After a median follow-up of 22.86 years (IQR, 19.45-27.14 years), 213 deaths occurred in the T21 group (9.7%) compared with 123 (5.6%) in the euploidic comparators. After adjustment for age, sex, era, CHD complexity, and initial palliation, the hazard ratio of CHD-related mortality was 1.34 times higher in patients with T21 (95% CI, 0.92-1.97; P = .127).
CHD-related mortality for patients with T21 after cardiac surgical intervention is comparable with euploidic comparators. Children with T21 require lifelong surveillance for co-occurring conditions associated with their chromosomal abnormality.
与正常二倍体患者相比，评估唐氏综合征（T21）患者在先天性心脏病（CHD）手术后无移植长期生存情况及其死亡原因。
这是一项来自儿科心脏护理联合会（Pediatric Cardiac Care Consortium）的回顾性队列研究，通过国家死亡指数（National Death Index）和器官获取与移植网络（Organ Procurement and Transplantation Network）前瞻性收集了足够的直接标识符患者数据进行补充。生成了 Kaplan-Meier 生存图，并使用多变量 Cox 比例风险模型来检查 T21 患者与具有可比性 CHD 的 1:1 匹配正常二倍体患者之间的死亡风险因素。
符合纳入标准的 3376 例 T21 患者（75155 人年）完成了长期生存分析。T21 患者的 30 年生存率从室间隔缺损的 92.1%到复杂共同房室管的 65.3%不等。其中，2185 例 T21 患者成功与正常二倍体患者相匹配。中位随访时间为 22.86 年（IQR，19.45-27.14 年）后，T21 组发生 213 例死亡（9.7%），而正常二倍体对照组为 123 例（5.6%）。在校正年龄、性别、时代、CHD 复杂性和初始姑息治疗后，T21 患者 CHD 相关死亡率的风险比为 1.34 倍（95%CI，0.92-1.97；P=0.127）。
心脏手术后 T21 患者的 CHD 相关死亡率与正常二倍体患者相当。T21 患儿需要终身监测与他们染色体异常相关的并发疾病。
