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目的应用三维斑点追踪(3D-STI)技术评价MYBPC3基因突变致肥厚型心肌病患者的左室收缩功能和同步性的早期改变。方法利用靶向外显子捕获测序方法对274例HCM患者的96个与遗传性心肌病相关基因进行全部外显子扩增和高通量测序,确定相应基因型,同时对所有研究对象进行临床资料、常规二维超声及三维斑点追踪技术分析。结果 20例患者携带MYBPC3截短突变,19例患者携带MYBPC3错义突变;截短突变患者发病年龄较早,进行改良Morrow术式的患者较多,且1例患者猝死;二维超声参数,两组间无统计学差异;三维应变截短突变患者左室纵向应变(GLS)与径向应变(GRS)减低明显,同步性参数纵向及径向应变达峰时间标准差和最大差值(TLS-SD%、TRS-SD%、TLS-diff%、TRS-diff%)显著延长(P<0.05)。结论 3D-STI技术能够发现MYBPC3截短突变患者左室收缩功能和同步性早期改变,可为临床HCM危险分层和治疗评估提供参考依据。
Objective To evaluate the early changes of left ventricular systolic function and synchronicity in patients with hypertrophic cardiomyopathy induced by MYBPC3 gene mutation using 3D speckle tracking (3D-STI). Methods All the 96 genes associated with hereditary cardiomyopathy in 274 patients with HCM were amplified by exon-targeted sequencing and sequenced by high-throughput sequencing and the corresponding genotypes were determined. All the subjects were studied clinically Data, conventional two-dimensional ultrasound and three-dimensional speckle tracking technology analysis. Results Twenty patients had MYBPC3 truncated mutations and 19 patients had MYBPC3 missense mutations. The patients with truncated mutations had earlier onset, more patients underwent modified Morrow procedure, and one patient died suddenly. Two-dimensional ultrasound parameters, There was no significant difference between the two groups. The left ventricular longitudinal strain (GLS) and radial strain (GRS) decreased significantly in patients with three-dimensional truncated truncated mutations. The standard deviation and maximum difference (TLS- SD%, TRS-SD%, TLS-diff%, TRS-diff%) were significantly prolonged (P <0.05). Conclusion The 3D-STI technique can detect early changes of left ventricular systolic function and synchronicity in patients with truncated MYBPC3 truncation, which may provide a reference for the clinical evaluation of the risk stratification and treatment of HCM.