Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, People's Republic of China.
J Bone Joint Surg Am. 2023 Apr 5;105(7):537-548. doi: 10.2106/JBJS.22.00277. Epub 2023 Feb 15.
Congenital scoliosis is frequently associated with anomalies in multiple organ systems. However, the prevalence and distribution of associated anomalies remain unclear, and there is a large amount of variation in data among different studies.
Six hundred and thirty-six Chinese patients who had undergone scoliosis correction surgery at Peking Union Medical College Hospital from January 2012 to July 2019 were recruited, as a part of the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study. The medical data for each subject were collected and analyzed.
The mean age (and standard deviation) at the time of presentation for scoliosis was 6.4 ± 6.3 years, and the mean Cobb angle of the major curve was 60.8° ± 26.5°. Intraspinal abnormalities were found in 186 (30.3%) of 614 patients, with diastematomyelia being the most common anomaly (59.1%; 110 of 186). The prevalence of intraspinal abnormalities was remarkably higher in patients with failure of segmentation and mixed deformities than in patients with failure of formation (p < 0.001). Patients with intraspinal anomalies showed more severe deformities, including larger Cobb angles of the major curve (p < 0.001). We also demonstrated that cardiac anomalies were associated with remarkably worse pulmonary function, i.e., lower forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), and peak expiratory flow (PEF). Additionally, we identified associations among different concomitant malformations. We found that patients with musculoskeletal anomalies of types other than intraspinal and maxillofacial were 9.2 times more likely to have additional maxillofacial anomalies.
In our cohort, comorbidities associated with congenital scoliosis occurred at a rate of 55%. To our knowledge, our study is the first to show that patients with congenital scoliosis and cardiac anomalies have reduced pulmonary function, as demonstrated by lower FEV1, FVC, and PEF. Moreover, the potential associations among concomitant anomalies revealed the importance of a comprehensive preoperative evaluation scheme.
Diagnostic Level III. See Instructions for Authors for a complete description of levels of evidence.
先天性脊柱侧凸常与多器官系统异常相关。然而，相关异常的发生率和分布仍不清楚，不同研究的数据差异很大。
本研究纳入了 2012 年 1 月至 2019 年 7 月期间在北京协和医院接受脊柱侧凸矫正手术的 636 例中国患者，这是“解析脊柱侧凸及相关并发症的疾病谱（Deciphering disorders involving Scoliosis and COmorbidities，DISCO）”研究的一部分。收集并分析每位患者的医学数据。
脊柱侧凸就诊时的平均年龄（标准差）为 6.4±6.3 岁，主弯 Cobb 角的平均度数为 60.8°±26.5°。在 614 例患者中有 186 例（30.3%）存在椎管内异常，其中最常见的异常是脊髓纵裂（59.1%，110/186）。在节段性发育不良和混合型畸形患者中，椎管内异常的发生率明显高于形成障碍型（p<0.001）。有椎管内异常的患者脊柱畸形更为严重，包括主弯 Cobb 角更大（p<0.001）。我们还发现心脏异常与显著较差的肺功能有关，即第一秒用力呼气容积（FEV1）、用力肺活量（FVC）和呼气峰值流量（PEF）较低。此外，我们还发现了不同伴发畸形之间的关联。我们发现，除了椎管内和颌面骨骼之外，有骨骼肌肉畸形的患者发生其他颌面骨骼畸形的风险增加 9.2 倍。
在我们的队列中，与先天性脊柱侧凸相关的合并症发生率为 55%。据我们所知，本研究首次表明，患有先天性脊柱侧凸和心脏异常的患者肺功能降低，表现为 FEV1、FVC 和 PEF 降低。此外，伴发畸形之间的潜在关联凸显了全面术前评估方案的重要性。
诊断 III 级。有关证据等级的完整描述，请参见作者须知。
