Myocardial fibrosis comparison by cmr between genetically positive HCM patients with MYBPC3 and MYH7 gene mutations
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چکیده
منابع مشابه
Myocardial fibrosis comparison by cmr between genetically positive HCM patients with MYBPC3 and MYH7 gene mutations
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 asso...
متن کامل[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
INTRODUCTION AND OBJECTIVES Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practice. Our aim was to determine the frequency of mu...
متن کاملHypertrophic 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....
متن کاملClinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
OBJECTIVES The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort. BACKGROUND In patients with HCM, double or compound sarcomere gene mutation heterozygosity might be associated with earlier disease onset and more severe outcome. The occurrence of triple mutations has not been reported. M...
متن کاملExpression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
BACKGROUND Mutations in myofilament proteins, most commonly MYBPC3-encoded myosin-binding protein C and MYH7-encoded beta-myosin heavy chain, can cause hypertrophic cardiomyopathy (HCM). Despite significant advances in structure-function relationships pertaining to the cardiac sarcomere, there is limited knowledge of how a mutation leads to clinical HCM. We, therefore, set out to study expressi...
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ژورنال
عنوان ژورنال: Journal of Cardiovascular Magnetic Resonance
سال: 2015
ISSN: 1532-429X
DOI: 10.1186/1532-429x-17-s1-p348