左室心肌致密化不全家系的临床特征及超声心动图表现  

Clinical and UCG Features of a Family with Left Ventricular Noncompaction

作　　者：朱雯瑾[1] 武金娥 李国良[1] 杨春[1] ZHU Wen-jin;WU Jin-e;LI Guo-liang(Department of Cardiovascular Medicine,the First Affiliated Hospital of Xian Jiaotong University Health Science Center,Xian 710061,China)

机构地区：[1]西安交通大学医学院第一附属医院心血管内科,陕西西安710061

出　　处：《医学临床研究》2019年第3期433-435,共3页Journal of Clinical Research

摘　　要：【目的】通过对一个左室心肌致密化不全(Left ventricular noncompaction,LVNC)家系进行系谱和超声心动图(UCG)分析,为该疾病的诊断和治疗提供更多依据。【方法】对一个LVNC家系进行调查、对临床表现和UCG进行分析,绘制该家系的家族系谱,观察记录家系中患者的临床表现及UCG特点。【结果】该LVNC家系中3代15人中,共有6位具有LVNC的临床表现或UCG改变。在该家系中成年患者主要表现为左心功能不全,未成年患者无临床症状。UCG表现为典型的LVNC改变:左室局部心肌存在异常粗大的肌小梁,肌小梁间可见深陷隐窝;收缩末期左室心肌非致密化层/致密化层(N/C)≥2,射血分数<50%。通过对家族系谱进行分析,发现该家系中男女均可患病,患者的父母双亲中必定有一人是患者,家系中每一代均有发病者,提示LVNC在该家系中以常染色体显性遗传方式遗传。【结论】LVNC的遗传方式为常染色体显性遗传,成年患者的临床表现主要为左心功能不全,未成年患者无临床症状。UCG在LVNC的诊断当中发挥着重要作用,能够发现LVNC的典型改变。[Objective] To analyze the pedigree and ultrasonic cardiogram(UCG)of a family with left ventricular noncompaction(1VNC)to provide more evidence for the diagnosis and treatment of LVNC.[Methods]Afamily of LVNC was investigated,clinical manifestations and UCG were analyzed,and the pedigree of the family was drawn.The clinical manifestations and UCG characteristics of the family were observed and recorded.[Results]Of the 15 LVNC families of 3 generations,6 had clinical manifestations or UCG changes of 1.VNC.In this family,the main manifestation of adult patients was left ventricular dysfunction,while the minor patients had no clinical symptoms.UCG showed typical LVNC changes:abnormal large trabeculae in left ventricular regional myocardium,deep recesses between trabeculae,non-dense layer/dense layer of left ventricular myocardium at the end of systole(N/C)>2,ejection fraction<50%.Through the analysis of the family pedigree,it was found that both men and women in the family were susceptible to the disease.One of the parents of the patient must be a patient.There were patients in every generation of the family,suggesting that LVNC was inherited by autosomal dominant inheritance in the family.[Conclusion]The inheritance mode of 1VNC is autosomal dominant inheritance.The main clinical manifestations of LVNC in adults are left ventricular insufficiency,and there are no clinical symptoms in minors.UCG plays an important role in the diagnosis of LVNC and can detect typical changes of LVNC.

关 键 词：心室功能障碍 左/病理生理学 超声心动描记术 

分 类 号：R541[医药卫生—心血管疾病]