Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Fukuoka, Japan.
Am J Med Genet A. 2022 Feb;188(2):534-539. doi: 10.1002/ajmg.a.62550. Epub 2021 Nov 3.
Individuals with trisomy 18 (T18) usually have congenital heart disease, often with pulmonary hypertension, which is associated with poor outcomes. This study aimed to explore the characteristics of pulmonary circulation including pulmonary vascular resistance (Rp) and compliance (Cp) among them. We retrospectively reviewed cardiac catheterization data in subjects with T18, trisomy 21 (T21), and without chromosomal anomaly (control group) who were referred due to heart failure associated with ventricular septal defect between 2000 and 2020. Pulmonary hemodynamic parameters including Rp and Cp were compared between these groups. We studied 20 subjects with T18, 88 subjects with T21, and 240 control subjects. There was no significant difference in age (T18: 4.6 [3.0-6. 9] vs. T21: 2.8 [1.9-4.0] vs. control: 2.9 [1.6-3.2] months, p = 0.06) and mean pulmonary arterial pressure (T18: 41 [33-49] vs. T21: 35 [30-41] vs. control: 36 [28-43] mmHg, p = 0.121) between the groups. The pulmonary to systemic blood flow ratio (Qp/Qs) (p = 0.983), Rp (p = 0.449), and Cp (p = 0.195) did not differ between T18 and control groups. However, Qp/Qs and Cp in T18 group were significantly greater than that in T21 group (T18: Qp/Qs: 3.4 [2.3-5.2] vs. T: 21 2.3 [1.7-3.7], p = 0.001. Cp: 3.5 [2.3-5.5] vs. 2.3 [1.6-3.1] mmHg/mL/m , p = 0.007), while Rp was identical between the groups (T18: 2.0 [1.6-3.3] vs. T21: 2.3 [1.7-3.7], p = 0.386). The pulmonary circulation in T18 subjects differed from that observed in T21 subjects, and identical to that observed in control subjects. Pulmonary hypertension is expected to be normalized after reasonable corrective surgery in T18 patients with congenital heart disease.
个体患有三体 18 型（T18）通常会伴有先天性心脏病，常伴有肺动脉高压，这与不良预后有关。本研究旨在探讨 T18 患者的肺循环特征，包括肺血管阻力（Rp）和顺应性（Cp）。我们回顾性分析了 2000 年至 2020 年间因室间隔缺损导致心力衰竭而就诊的 T18、三体 21 型（T21）和无染色体异常（对照组）患者的心脏导管检查数据。比较了三组患者的 Rp 和 Cp 等肺血流动力学参数。我们研究了 20 名 T18 患者、88 名 T21 患者和 240 名对照组患者。三组患者的年龄（T18：4.6 [3.0-6. 9] vs. T21：2.8 [1.9-4.0] vs. 对照组：2.9 [1.6-3.2] 个月，p=0.06）和平均肺动脉压（T18：41 [33-49] vs. T21：35 [30-41] vs. 对照组：36 [28-43] mmHg，p=0.121）无显著差异。T18 组与对照组的肺-体循环血流比（Qp/Qs）（p=0.983）、Rp（p=0.449）和 Cp（p=0.195）无差异。然而，T18 组的 Qp/Qs 和 Cp 明显大于 T21 组（T18：Qp/Qs：3.4 [2.3-5.2] vs. T21：2.3 [1.7-3.7]，p=0.001，Cp：3.5 [2.3-5.5] vs. 2.3 [1.6-3.1] mmHg/mL/m，p=0.007），而 Rp 则两组相同（T18：2.0 [1.6-3.3] vs. T21：2.3 [1.7-3.7]，p=0.386）。T18 患者的肺循环与 T21 患者不同，与对照组相似。先天性心脏病 T18 患者的肺动脉高压有望在合理的矫正手术后恢复正常。
