Humpl Tilman, Berger Rolf M F, Bonnet Damien, Beghetti Maurice, Ivy Dunbar
Department of Pediatrics District Hospital of Loerrach Germany.
Beatrix Children's Hospital Pediatric and Congenital Cardiology Groningen The Netherlands.
Pulm Circ. 2025 Sep 3;15(3):e70146. doi: 10.1002/pul2.70146. eCollection 2025 Jul.
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21. TOPP (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension) is a centre-based, comprehensive registry. Patients aged between 3 months and 18 years at time of diagnosis were eligible if they met predefined haemodynamic criteria. Demographic data, clinical symptoms at presentation, diagnostic tools, etiology, hemodynamic data, treatment, and follow-up were collected from the data base. Differences between the Trisomy 21 group and the non-Trisomy 21 group were analysed by the non-parametric Mann-Whitney test. Categorical variables were compared using the chi-squared test, or Fisher's exact test in the case of low expected frequencies. Out of 531 children in the registry, 62 patients (11.7%) were diagnosed with Trisomy 21. Compared to children without Trisomy 21, those with Trisomy 21 were younger at diagnosis, and had more often an associated congenital heart disease. Clinical symptoms at diagnosis were similar in children with or without Trisomy 21. However, those with Trisomy 21 presented less frequently with dyspnea with exertion, but more frequently with cyanosis, either at rest or with exertion. A comprehensive diagnostic workup in all children with Trisomy 21 was not done. Children with Trisomy 21 had lower mean pulmonary artery pressure (median 50 mmHg, IQR 38-62) and similar indexed pulmonary vascular resistance (median 11.5 WU.m, IQR 7.4-18.4) compared to patients without Trisomy 21. Children with Trisomy 21 were treated less frequently with targeted therapies for pulmonary arterial hypertension and received less combination therapy. In children with Trisomy 21 and pulmonary hypertension, early systematic diagnostic work up is essential to obtain the correct underlying pathology and guides to appropriate treatment.
肺动脉高压在21三体综合征患儿中很常见，病因通常是多因素的。登记数据有助于更好地了解21三体综合征患儿的疾病发展、诊断检查和治疗模式。TOPP（儿科肺动脉高压追踪结果与实践）是一个基于中心的综合登记处。诊断时年龄在3个月至18岁之间且符合预定义血流动力学标准的患者符合入选条件。从数据库中收集人口统计学数据、就诊时的临床症状、诊断工具、病因、血流动力学数据、治疗和随访情况。21三体综合征组与非21三体综合征组之间的差异采用非参数曼-惠特尼检验进行分析。分类变量使用卡方检验进行比较，预期频数较低时则使用费舍尔精确检验。在登记的531名儿童中，62名患者（11.7%）被诊断为21三体综合征。与非21三体综合征患儿相比，21三体综合征患儿诊断时年龄更小，且更常伴有先天性心脏病。21三体综合征患儿和非21三体综合征患儿诊断时的临床症状相似。然而，21三体综合征患儿运动时呼吸困难的发生率较低，但静息或运动时发绀的发生率较高。并非所有21三体综合征患儿都进行了全面的诊断检查。与非21三体综合征患者相比，21三体综合征患儿的平均肺动脉压较低（中位数50 mmHg，四分位间距38 - 62），肺血管阻力指数相似（中位数11.5 WU.m，四分位间距7.4 - 18.4）。21三体综合征患儿接受肺动脉高压靶向治疗的频率较低，联合治疗也较少。对于患有21三体综合征和肺动脉高压的患儿，早期系统的诊断检查对于明确正确的潜在病理情况并指导适当治疗至关重要。
