Radiomic Analysis of Native T 1 Mapping Images Discriminates Between MYH7 and MYBPC3 ‐Related Hypertrophic Cardiomyopathy

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[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...

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Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

BACKGROUND The 2 most commonly affected genes in hypertrophic cardiomyopathy (HCM) are MYH7 (β-myosin heavy chain) and MYBPC3 (β-myosin-binding protein C). Phenotypic differences between patients with mutations in these 2 genes have been inconsistent. Scarce data exist on the genotype-phenotype association as assessed by tomographic imaging using cardiac magnetic resonance imaging. METHODS AN...

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Myocardial fibrosis delineation in late gadolinium enhancement images of Hypertrophic Cardiomyopathy patients using deep learning methods

Introduction: Accurate delineation of myocardial fibrosis in Late Gadolinium Enhancement on Cardiac Magnetic Resonance (LGE-CMR) has a crucial role in the assessment and risk stratification of HCM patients. As this is time-consuming and requires expertise, automation can be essential in accelerating this process. This study aims to use Unet-based deep learning methods to automate the mentioned ...

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T1 mapping in discrimination between hypertrophic and hypertensive cardiomyopathy

Background The differential diagnosis of hypertrophic phenotype remains challenging in clinical practice, in particular between hypertrophy cardiomyopathy (HCM) and increased left ventricular wall thickness (LVWT) due to systemic hypertension. Diffuse myocardial fibrosis is the characteristic feature in HCM, whereas hypertensive response is underpinned by addition of myofibrils in otherwise nor...

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Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7,...

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ژورنال

عنوان ژورنال: Journal of Magnetic Resonance Imaging

سال: 2020

ISSN: 1053-1807,1522-2586

DOI: 10.1002/jmri.27209