Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
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 کاملHypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice.
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...
متن کاملNationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
BACKGROUND The geographic isolation and homogeneous population of Iceland are ideally suited to ascertain clinical and genetic characteristics of hypertrophic cardiomyopathy (HCM) at the population level. METHODS AND RESULTS Medical records and cardiac imaging studies obtained between 1997 and 2010 were reviewed to identify Icelandic patients with HCM. Surviving patients were recruited for cl...
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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: Open Heart
سال: 2020
ISSN: 2053-3624
DOI: 10.1136/openhrt-2019-001220