Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.
Department of Structural Heart Disease, National Center for Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
J Craniofac Surg. 2021 May 1;32(3):920-924. doi: 10.1097/SCS.0000000000007296.
Congenital heart disease (CHD) is one of the most common combined malformations of microtia. There is currently no specific study that investigates the relationship between microtia and CHD.
This study collected microtia inpatients admitted from May 1, 2015 to July 31, 2016. The diagnosis of CHD was based on patient's symptoms, past history, and echocardiography. Pearson χ2 test was used to analyze the correlation between CHD and microtia.
A total of 30 cases (3.35%) were documented with CHD, including atrial septal defect (12/40.00%), ventricular septal defect (7/23.30%), patent ductus arteriosus (2/6.70%), complex congenital heart disease (3/10.00%), combined CHD (2/6.70%) and other malformations (4/13.30%). Analysis showed no statistically significant relation between CHD and the side of affected ear or gender.
The occurrence of CHD in microtia patients was higher than that in the general population. The relationship between them was explored mainly from the etiological perspective. Microtia and CHD were often combined in syndromes such as Goldenhar syndrome, 22q11 deletion syndrome, and CHARGE syndrome. Absence of genes or abnormal embryo development associated with these syndromes leads to the occurrence of both.
先天性心脏病(CHD)是小耳畸形最常见的合并畸形之一。目前尚无专门研究调查小耳畸形与 CHD 之间的关系。
本研究收集了 2015 年 5 月 1 日至 2016 年 7 月 31 日期间收治的小耳畸形住院患者。CHD 的诊断基于患者的症状、既往史和超声心动图。采用 Pearson χ2 检验分析 CHD 与小耳畸形之间的相关性。
共记录了 30 例(3.35%)CHD,包括房间隔缺损(12/40.00%)、室间隔缺损(7/23.30%)、动脉导管未闭(2/6.70%)、复杂先天性心脏病(3/10.00%)、合并 CHD(2/6.70%)和其他畸形(4/13.30%)。分析显示,CHD 与患耳侧别或性别之间无统计学显著关系。
小耳畸形患者 CHD 的发生率高于普通人群。主要从病因学角度探讨了两者之间的关系。小耳畸形和 CHD 常合并于 Goldenhar 综合征、22q11 缺失综合征和 CHARGE 综合征等综合征中。这些综合征相关基因缺失或胚胎发育异常导致了两者的同时发生。