Objective To detect the gene mutations of beta-myosin heavy chain gene (MYH7)in Chinese pedigrees with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype. Methods Exons 3,5,7-9,11-16 and 18-23 of the MYH7 gene were amplified with PCR in three Chinese pedigrees with HCM. The products were sequenced. Sequence alignment between the detected and the standard sequences was performed. Results A missense mutation of Thr441Met in exon 14was identified in a pedigree, which was not detected in the controls. Several synonymous mutations of MYH7 gene were detected in the three pedigrees. Conclusion The mutation of Thr441Met,located in the actin binding domain of the globular head, was first identified in Chinese. It probably caused the HCM.HCM is a heterogeneous disease. Many factors are involved in the process of its occurrence and development.