超声心动图诊断儿童马凡综合征  

Echocardiographic evaluation of pediatric patients with Marfan syndrome

作　　者：付煜玮 刘晓伟[1] 孙琳[1] 韩建成[1] 赵映[1] 刘文旭[1] 谷孝艳[1] 阮燕萍[1] 何怡华[1] FU Yuwei;LIU Xiaowei;SUN Lin;HAN Jiancheng;ZHAO Ying;LIU Wenxu;GU Xiaoyan;RUAN Yanping;HE Yihua(Department 2 of Echocardiography,Beijing Anzhen Hospital,Capital Medical University,Fetal Heart Disease and Maternal-Fetal Medical Consultation Center,Beijing Key Laboratory of Fetal Heart Disease and Maternal Fetal Medicine Research,Beijing Lab for Cardiovascular Precision Medicine,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院超声心动图二部胎儿心脏病母胎医学会诊中心胎儿心脏病母胎医学研究北京市重点实验室心血管疾病精准医学北京实验室,北京100029

出　　处：《中国医学影像技术》2018年第8期1202-1206,共5页Chinese Journal of Medical Imaging Technology

基　　金：北京市医院管理局临床医学发展专项--"扬帆"计划(XMLX201604);心血管疾病精准医学北京实验室(PXM2017_014226_000037);首都卫生发展科研专项(2016-1-2061)

摘　　要：目的观察儿童马凡综合征(MFS)患者的超声心动图表现。方法回顾性分析临床疑诊MFS的59例患儿的影像学及临床检查资料,观察其超声心动图表现。结果 12例诊断为MFS,6例诊断为潜在MFS,其中11例存在家族史,7例为散发病例。上述18例中,4例存在主动脉窦部增宽,11例存在主动脉窦部扩张,1例合并主动脉瓣轻度反流,2例合并肺动脉窦部扩张;8例二尖瓣受累,5例二尖瓣脱垂并中—重度反流,5例三尖瓣受累;1例同时存在二尖瓣及三尖瓣脱垂而接受二尖瓣成形术;1例合并室间隔缺损,接受室间隔缺损修补术。结论儿童MFS中,以主动脉窦部增宽或扩张最为常见,可合并二尖瓣脱垂;超声心动图检查有助于早期诊断和及时干预儿童MFS。Objective To explore the echocardiographic features of Marfan syndrome（MFS）in children.Methods Echocardiographic and clinical data of 59 suspected pediatric MFS patients were analyzed respectively,and the echocardiographic features were observed.Results A total of 12 patients were diagnosed as MFS,while 6 patients were diagnosed as potential MFS.Among these 18 patients,11 were with MFS family history and 7 were sporadic.Echocardiography showed 4 patients were with aortic sinus widened,11 with aortic sinus dilation,1 with aortic valve regurgitation and 2 with pulmonary sinus dilation;8 patients showed mitral valve involvements,5 with mitral valve prolapse and combined with moderate to severe regurgitation,5 with three tricuspid involvement;1 with both mitral valve and tricuspid valve prolapse and underwent mitral valve plasty,another 1 patient was found with ventricular septal defect and underwent repair surgery.Conclusion In pediatric MFS patients,aortic sinus widened or dilatation is mostly seen and may combine with mitral valve prolapse.Echocardiography is helpful to early detection and timely intervention of pediatric MFS patients.

关 键 词：马凡综合征 超声心动描记术 主动脉扩张 二尖瓣脱垂 

分 类 号：R451.1[医药卫生—治疗学] R540.45[医药卫生—临床医学]