超声心动图在心肌致密化不全心肌病家系分析中的应用

目的：通过对心肌致密化不全心肌病家系的分析，了解该病在中国患者中的遗传规律及临床特点，以实现早期诊断与治疗。方法：对患者及其亲属采用彩色多普勒超声心动图检查，通过对左心室长轴、左心室短轴、心尖四腔等多切面扫查。观察心肌、心内膜的组织结构和血流分布等特征性超声心动图表现，诊断心肌致密化不全心肌病。结果：所有先证者的超声心动图检查均发现受累心腔内有异常隆突、粗大的肌小梁，其间存在深陷的隐窝，心腔内血液与之相通，并伴有不同类型的心律失常，1例发生肺栓塞。在调查的4个家系中除1例为散发外，其余家系内均发现心肌病患者，其中1名亲属为肥厚型心肌病。结论：通过家系调查提示心肌致密化不全心肌病有遗传性，但遗传规律尚不能明确，且本研究首次发现该病与肥厚型心肌病同时出现在一个家系中，其联系有待进一步研究。

Pedigree analysis of noncompaction of ventricular myocardium by two-dimensional echocardiography

Objective: To study the feature of noncompaction of ventricular myocardium(NVM) by using two-dimensional echocardiography and to find out the law of heredity in Chinese patients by pedigree analyses, which can help the early diagnosis and secondary prevention. Methods: Two-dimensional echocardiography and color Doppler were used for acquiring patients' and their family members' 2-chamber view, short axis view and 4-chamber view of left ventricle. Ventricular myocardium and endocardium were studied carefully. Results: The myocardium of the probands appeared loosened, with deep intramyocardial recesses and prominent trabeculations. Color Doppler image of the apical myocardium demonstrated blood flow throughout the trabeculations. Arrhythmia was found and pulmonary artery embolism was found in one patient. In three of the four kindreds which were studied, NVM patients were found and one hypertrophic cardiomyopathy (HCM) patient was found. Conclusion: Pedigree analysis show a vague rule of inheritance. Further study should be done to find out the relation between NVM and HCM.