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目的应用三维斑点追踪技术(3D-STI)评价MYBPC3基因突变所致家族性肥厚型心肌病(HCM)患者左室收缩功能的早期改变。方法对一个HCM家系进行研究,对先证者通过二代测序方法进行心脏遗传性疾病相关的96个基因测序,通过生物信息学分析确定突变位点,家系其他成员通过Sanger测序对突变位点进行验证,确定相应的基因型。家系资料调查包括超声心动图、3D-STI。结果包括先证者在内3例家系成员携带MYBPC3-P1208fs基因突变,其他家系成员未发现此突变。此家系中与未携带基因突变组相比,携带MYBPC3-P1208fs基因突变组的部分节段纵向应变和整体纵向应变减低(P<0.05),其余参数均无统计学差异。结论 3D-STI能敏感地发现MYBPC3-P1208fs突变所致家族性HCM患者左室收缩功能的早期损害,为临床早期诊断、预测HCM风险提供参考依据。
Objective To evaluate the early changes of left ventricular systolic function in patients with familial hypertrophic cardiomyopathy (HCM) induced by MYBPC3 gene mutation by using 3D speckle tracking (3D-STI). Methods A HCM pedigree was studied. The probands sequenced 96 genes related to cardiac genetic diseases by second-generation sequencing. The mutation sites were determined by bioinformatics analysis. The other members of the pedigree were sequenced by Sanger for mutation sites Verify that the corresponding genotype is determined. Pedigree data included echocardiography, 3D-STI. The results included probands, including 3 cases of family members carrying MYBPC3-P1208fs gene mutations, other members of the family did not find this mutation. In this family, the longitudinal strain and overall longitudinal strain of some segments carrying MYBPC3-P1208fs gene mutation group were lower than those without the mutation (P <0.05), and the other parameters were not statistically different. Conclusion 3D-STI can sensitively detect the early damage of left ventricular systolic function in familial HCM patients induced by MYBPC3-P1208fs mutation and provide a reference for early diagnosis and HCM risk prediction.