Clinical Expression in Patients With Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Gene Mutation
نویسندگان
چکیده
منابع مشابه
mutation analysis of three exons of myosin-binding protein c3 in patients with hypertrophic cardiomyopathy
background: hypertrophic cardiomyopathy is a genetic disorder with a prevalence rate of 0.2% in the general population. it comes from mutations in sarcomeric proteins. cardiac myosin-binding protein c3 is one of the critical genes in hypertrophic cardiomyopathy (hcm) and sudden cardiac death, accounting for about 20% of hcm-causing mutations. genetic testing is recommended in patients with hcm....
متن کاملGender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
BACKGROUND Although gender may be one of the important factors modifying phenotypic expression in hypertrophic cardiomyopathy (HCM), there has been little information on it. METHODS AND RESULTS We investigated gender differences in the clinical features of HCM caused by cardiac myosin-binding protein C gene (MYBPC3) mutations. Sixty-one subjects (28 families) carrying MYBPC3 mutations were st...
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Familial hypertrophic cardiomyopathy (FHC) is an inherited autosomal dominant disease caused by mutations in sarcomeric proteins. Among these, mutations that affect myosin binding protein-C (MyBP-C), an abundant component of the thick filaments, account for 20% to 30% of all mutations linked to FHC. However, the mechanisms by which MyBP-C mutations cause disease and the function of MyBP-C are n...
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Hypertrophic cardiomyopathy is an autosomal dominant inherited disease characterized by ventricular hypertrophy and myofibril disarray. Mutations responsible for hypertrophic cardiomyopathy have been identified in 11 genes that encode for cardiac sarcomere proteins. Traditionally, hypertrophic cardiomyopathy due to mutation of the myosin-binding protein C gene (MYBPC3) has been thought to follo...
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Hypertrophic cardiomyopathy (HCM) is one of the most common causes of sudden cardiac death in young adults and is a familial disease in at least 60% of cases. Causative mutations have been identified in several sarcomeric genes, including the myosin binding protein C (MYBPC3) gene. Although numerous causative mutations have been identified, the pathogenetic process is still poorly understood. A...
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ژورنال
عنوان ژورنال: Circulation
سال: 1999
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circ.100.4.446/-c