一个松软瓣膜综合征家系的超声心动图特征及遗传特点分析  

Echocardiographic Manifestations and Genetic Characteristics of a Family with Floppy Valves Syndrome

作　　者：李莉锦 孙梦娇[1] 李真 李鹏歌 刘梦梦 侯苏芸[1] 孙欣欣 滑少华[1] Li Lijin;Sun Mengjiao;Li Zhen;Li Pengge;Liu Mengmeng;Hou Suyun;Sun Xinxin;Hua Shaohua(Department of Ultrasound,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院超声科,郑州市450052

出　　处：《中国超声医学杂志》2023年第4期462-464,共3页Chinese Journal of Ultrasound in Medicine

基　　金：国家临床重点专科建设项目[No.2013(544)];河南省自然科学基金项目(No.202300410466);河南省医学科技攻关计划省部共建重点项目(No.SBGJ202002059)。

摘　　要：目的 分析松软瓣膜综合征的超声心动图特征及遗传特点。方法 收集一个松软瓣膜综合征家系共21例的超声心动图资料,分析松软瓣膜综合征的超声心动图表现及其遗传特点。结果 家族21例中,Ⅲ1、Ⅲ7、Ⅲ10共3男孩发病,超声心动图均表现为二、三尖瓣和主动脉瓣瓣叶增厚、冗长,回声增强,瓣叶运动幅度增加,呈“甩鞭征”,瓣叶脱垂伴有不同程度反流。Ⅲ7及Ⅲ10术后病理回示瓣叶黏液样变性。结论 松软瓣膜综合征可能为常染色体隐性遗传病,超声发现两个及以上瓣膜脱垂时应考虑到这一疾病,及时对家系成员进行筛查。Objective The purpose of this study was to investigate echocardiographic manifestations and genetic characteristics of floppy valves syndrome.Methods Echocardiographic manifestations of 21 persons with floppy valves syndrome pedigree were collected.Echocardiographic manifestations and genetic characteristics of floppy valves syndrome were analyzed.Results Among the 21 people,Ⅲ1,Ⅲ7 andⅢ10(they were all boys)had floppy valves syndrome.Echocardiography showsed thicken and redundant atrioventricular and aortic valve leaflets,enhanced echogenicity,increased valvular motion and valve prolapse with varying degrees of regurgitation.Postoperative pathology ofⅢ7 andⅢ10 showed the myxomatous valve degeneration.Conclusions It is supposed that floppy valves syndrome might well be an autosomal recessive inherited disease.When two or more valve prolapses are found by ultrasound,this disease should be considered and family members should be screened in time.

关 键 词：松软瓣膜综合征 遗传学 超声心动图 常染色体隐性遗传病 

分 类 号：R540.45[医药卫生—心血管疾病] R725.4[医药卫生—内科学]