儿童Berry综合征的影像学特征

Imaging Features of Berry Syndrome in Children

目的分析儿童Berry综合征的临床及影像学特征。资料与方法回顾性分析5例Berry综合征患儿的临床资料,分析其超声心动图、CT血管成像(CTA)、心导管检查及手术治疗。结果5例患儿中,2例合并手指畸形,1例合并全面发育落后。5例均行超声心动图及CTA检查,3例行心导管检查,超声心动图及CTA均检出主肺动脉窗Ⅲ型4例,Ⅱ型1例;均检出5例主动脉弓离断,其中超声心动图检出A型4例,B型1例,CTA均诊断为A型;均检出4例右肺动脉异常起源于升主动脉,漏诊的1例经手术确诊。合并心内畸形:5例动脉导管未闭,5例肺动脉高压,2例房间隔缺损或卵圆孔未闭,1例术中发现右侧冠状动脉起源变异。3例行手术治疗,术后均通过超声心动图发现肺动脉高压明显降低,但大动脉水平均存在不同程度的梗阻。结论Berry综合征是一组罕见的先天性心血管畸形,可合并其他心内及心外畸形。超声心动图联合CTA可较准确地诊断Berry综合征,但也有漏诊及误诊,手术发现可作为诊断"金标准"。

Purpose To analyze the clinical and imaging features of Berry syndrome in children.Materials and Methods Five children diagnosed as Berry syndrome were retrospectively analyzed.The clinical data,echocardiography,CT angiography(CTA),cardiac catheterization and surgical treatment were analyzed.Results For five patients,two cases had finger deformities and one case had global developmental delay.Five cases underwent echocardiography and CTA examination,three cases underwent cardiac catheterization,four cases of aorto-pulmonary window typeⅢand one case of typeⅡwere detected by echocardiography and CTA;five cases of interruption of aortic arch were detected.Echocardiography detected four cases of type A and one case of type B,while CTA was all diagnosed as type A;four cases of aortic origin of right pulmonary artery were detected,and one case of missed diagnosis was confirmed by surgery.Combined with intracardiac malformations,there were five cases of patent ductus arteriosus,five cases of pulmonary hypertension,two cases of atrial septal defect or patent foramen ovale,and one case of right coronary artery origin variation(as found during surgery).Three cases underwent surgical treatment,postoperative echocardiography found that the pulmonary artery pressure was significantly reduced,but the large arteries had different degrees of obstruction.Conclusion Berry syndrome is a group of rare congenital cardiovascular malformations,which can be combined with other intracardiac and extracardiac malformations.Echocardiography combined with CTA can more accurately diagnose Berry syndrome,but there are also missed and misdiagnosed cases.Surgical findings can be used as the gold standard for diagnosis.