Myocardial fibrosis comparison by cmr between genetically positive HCM patients with MYBPC3 and MYH7 gene mutations
نویسندگان
چکیده
Background Advances in tissue characterization with late gadolinium enhancement (LGE) by cardiovascular magnetic resonance (CMR) have highlighted the importance of myocardial fibrosis (MF) in hypertrophic cardiomyopathy (HCM) by confirming that its presence and extent predicts adverse outcomes. Despite of the identification of several genes related to HCM, few studies have investigated the association between genotype and MF. In this study, we sought to investigate the relationship between two most common gene mutations in HCM and the extension of MF by LGE.
منابع مشابه
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype....
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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) reported as the most frequently mutated: in fact, these account for around 50% of all cases related to sarcomeric gene mutations, which are coll...
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عنوان ژورنال:
دوره 17 شماره
صفحات -
تاریخ انتشار 2015