基因突变阳性肥厚型心肌病患者超声心动图表现初步探讨

Preliminary observation in patients of positive gene mutation with hypertrophic cardiomyopathy by echocardiography

目的:初步探讨基因突变阳性肥厚型心肌病超声心动图的特点。方法:通过基因检测筛选出肥厚型心肌病患者基因突变阳性者,应用超声心动图观察患者室壁厚度、房室内径,并且通过多普勒组织成像观察患者心脏功能。结果:检测出肥厚型心肌病基因突变阳性患者5例,突变结果分别为β-MyHC、MyBP-C、TnT编码基因突变。超声表现均为左室壁为非对称性肥厚,均为非梗阻性肥厚型心肌病,都表现出左室舒张功能减低。结论:二维超声心动图能够描述肥厚型心肌病患者心脏结构变化,多普勒组织成像能够敏感的发现肥厚型心肌病基因突变患者心功能改变。MyHC左室舒张功能减低最明显。

Objective： To evaluate cardiac structure and function in patients of gene mutation with hypertrophic eardiomyopathy with ultrasonogaphy. Methods：Patients were screened by gene examination. The stracture and function of heart were measured by ultrasonography in patients of positive gene mutation. Results：Five patients have gene mutation include β-MyHC, MyBP-C, TnT. Cardiac structure of patients displayed asymmetric hypertrophy and non-obstruct in left ventricular out flow. Left ventricular diastolic function was reduced. Conclusion：2-D echocardiography could display cardiac structure. Doppler tissue imaging can sensitively reflect cardiac function in patients with hypertrophic catdiomyopathy. Gene mutation of MyHC mostly impaired left ventricular diastolic function.