主动脉弓离断及其合并畸形和综合征的超声心动图表现

目的探讨及分析主动脉弓离断（IAA）及其合并畸形（组合）和综合征的超声心动图诊断特征。 方法回顾性分析2014年1月至2019年12月在首都医科大学附属北京儿童医院经CT血管造影（CTA）和（或）手术证实的IAA患儿的影像学及临床资料,总结IAA及其合并畸形（组合）和综合征的诊断特征,探寻诊断规律。 结果纳入资料齐全的IAA患儿共38例,其中男性26例,女性12例,年龄为出生后2 d~9岁,中位年龄为3个月。38例患儿中,A型占87%（33/38）;B型占13%（5/38）;C型占0。38例IAA患儿均合并其他心血管畸形,将合并心血管畸形进行总结归纳,共发现6种畸形（组合）和综合征,分别为IAA三联征（55%,21/38）、Berry综合征（8%,3/38）、永存第五主动脉弓（21%,8/38）、Shone综合征（8%,3/38）、PHACE综合征（3%,1/38）、单纯合并多发侧支血管（5%,2/38）;为降主动脉供血的异常血管有动脉导管未闭、永存第五主动脉弓及侧支血管。38例患儿中,34例行CTA检查,27例行心外科手术治疗,超声确诊37例,漏诊的1例为Shone综合征患儿,超声诊断为主动脉缩窄。 结论超声心动图能早期诊断IAA,结合其易合并畸形（组合）及综合征的超声诊断思路及特征,有助于提高全面诊断正确率,减少漏误诊,为外科手术提供更为准确的诊断依据。

Echocardiographic manifestations of interruption of the aortic arch and its accompanied cardiovascular malformations and syndromes

ObjectiveTo explore the echocardiographic diagnosis of interruption of the aortic arch (IAA) and its accompanied cardiovascular malformations and syndromes. MethodsWe retrospectively analyzed the imaging and clinical data of children with IAA confirmed by CTA and/or surgery at Beijing Children's Hospital, Capital Medical University from January 2014 to December 2019 to summarize the diagnostic characteristics of IAA and its accompanied cardiovascular malformations and syndromes and explore the rules of diagnosis. ResultsA total of 38 cases were included, including 26 males and 12 females. The patients ranged in age from 2 days to 9 years old, with a median age of 3 months. Among the 38 cases, type A accounted for 87% (33/38), type B accounted for 13% (5/38), and type C accounted for 0. All the 38 cases were associated with other cardiovascular malformations. A total of six malformation combinations or syndromes were found, including the triad of interrupted aortic arch (55%, 21/33), Berry syndrome (8%, 3/38), combination with permanent fifth aortic arch (21%, 8/38), Shone syndrome (8%, 3/38), Phace syndrome (3%, 1/38), and simple combination with multiple collateral vessels (5%, 2/38). The abnormal blood vessels supplying the descending artery included patent ductus arteriosus, permanent fifth aortic arch, and collateral vessels. Of the 38 cases, 34 underwent CTA examination, 27 underwent cardiac surgical treatment, 37 were correctly diagnosed by echocardiography, and one patient with Shone syndrome was misdiagnosed with coarctation of the aorta. ConclusionEchocardiography can be used to diagnose IAA and accompanied malformations and syndromes, which can improve the accuracy of comprehensive diagnosis, reduce misdiagnosis, and provide more information for surgery.