Double heterozygosity in sarcomere genes in a Chinese family with hypertrophic cardiomyopathy

摘要

Objective Familial hypertrophic cardiomyopathy(HCM)is a common autosome dominant cardiovascular disease,mainly caused by mutations in sarcomeric protein genes.Only about 5%of the patients carried double or compound heterozygosity,which might be related to earlier disease onset and more severe outcome.We aimed to identify the disease-causing mutation in a Chinese family with HCM and analyze the genotype-phenotype correlation.