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Titlebook: Clinical Cardiogenetics; Hubert F. Baars,Pieter A. F. M. Doevendans,J. Pete Book 20162nd edition Springer International Publishing Switzer

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发表于 2025-3-21 17:00:51 | 显示全部楼层 |阅读模式
书目名称Clinical Cardiogenetics
编辑Hubert F. Baars,Pieter A. F. M. Doevendans,J. Pete
视频video
概述Practical cardiac genetics textbook for the clinician.Containing detailed information on disease-causing genes.Bench-to-bedside approach
图书封面Titlebook: Clinical Cardiogenetics;  Hubert F. Baars,Pieter A. F. M. Doevendans,J. Pete Book 20162nd edition Springer International Publishing Switzer
描述.Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.. . .The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. . . .The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic d
出版日期Book 20162nd edition
关键词Hypertrophic cardiomyopathy; Short QT-syndrome; Brugada syndrome; Sudden cardiac death; Congenital heart
版次2
doihttps://doi.org/10.1007/978-3-319-44203-7
isbn_ebook978-3-319-44203-7
copyrightSpringer International Publishing Switzerland 2016
The information of publication is updating

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Zusammenfassung und Handlungsempfehlungen,hies are characterized by incomplete penetrance, meaning that some mutation carriers will remain unaffected during their entire life, and variable expression, i.e. the type and severity of the disease can vary widely, even within families. The availability of diagnostic and management guidelines for
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https://doi.org/10.1007/978-3-642-56422-2ergo periodic cardiac evaluation for the presence of LVH. In about half of all patients, a disease causing mutation can be detected in one of the genes encoding for sarcomeric proteins. Detection of a disease causing mutation allows predictive genetic testing in relatives, and facilitates identifica
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Christoph Seifarth,Frank L. Dederichsse gene. The nonisolated forms of LVNC are caused by a range of rare genetic defects. Until now, in half of familial isolated LVNC, the genetic defect remains unknown. Genetic defects in a large number of sarcomere and other cardiomyopathy genes and in genes primarily associated with skeletal myopat
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Introduction to Molecular Geneticsilies and populations” section. Although NGS is becoming the most widely used technique to identify mutations, still several other techniques are being applied and in the “Molecular Genetic Techniques” section an overview of all currently used methods is provided. With the use of the aforementioned
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Arrhythmogenic Cardiomyopathynormalities, ventricular arrhythmias with a LBBB morphology, functional and structural alterations of the RV, and fibro-fatty replacement in endomyocardial biopsy. Two-dimensional echocardiography, cineangiography and magnetic resonance are the imaging tools to visualize structural-functional abnorm
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