نتایج جستجو برای: mybpc3
تعداد نتایج: 307 فیلتر نتایج به سال:
Hypertrophic cardiomyopathy (HCM) is a common inherited disorder with an estimated prevalence of 1 in 500 worldwide. The disease is inherited in families in an autosomal dominant fashion and is usually caused by mutations in genes encoding contractile proteins such as cardiac -myosin heavy chain (MYH7), cardiac troponin T (TNNT2), cardiac myosin binding protein-C (MYBPC3), cardiac troponin I, -...
BACKGROUND Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding cardiac sarcomere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropria...
BACKGROUND Little is known about the clinical characteristics, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy (HCM) in Africans. The objective of this study was to delineate the clinical and genetic features and outcome of HCM in African patients. METHODS Information on clinical presentation, electrocardiographic and echocardiographic findings, and outcome of ...
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...
Hypertrophic cardiomyopathy (HCM) is a familial, genetically determined, primary cardiomyopathy caused by mutations in genes coding for proteins of the sarcomere, or, less frequently, genes involved in storage diseases. In pediatric settings, pure HCM has an estimated incidence of 4.7 per million children. The disease is often sub-clinical and goes unrecognized mainly because most patients with...
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