دانلود کتاب Clinical Cardiogenetics

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion.Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.0202This practical cardiogenetic reference is for those who are involved in the care for cardiac patients with a genetic disease. It contains detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.0302Clinical management and signsare 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 disease separately.Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included.This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as:Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?0402Molecular Genetics.- Clinical genetics.- Differential diagnosis of cardiomyopathies.- Hypertrophic Cardiomyopathy.- Dilated Cardiomyopathy.- Arrhythmogenic Cardiomyopathy.- Non-Compaction Cardiomyopathy.- Hereditary neuromuscular diseases and cardiac involvement.- Fabry disease.- Long QT Syndrome.- Brugada Syndrome.- Short QT Syndrome.- Cathecholaminergic Polymorphic VT.- Sudden death and Idiopathic Ventricular Fibrillation.- Thoracic Aortic Aneurysm Dissection.- Bicuspid aortic valve.- Premature coronary artery disease.1302Hubert F. Baars has been a general and genetic cardiologist in the Elisabeth-Tweesteden Hospital Tilburg, The Netherlands, for over 20 years. He has a particular interest in hereditary heart diseases and founded the Brabant outpatient clinic for cardiogenetics. At present he is the director of the DNA clinic in the Netherlands, a chain of outpatient clinics for cardiogenetics. In addition he is a consultant cardiologist at the OLVG Hospital in Amsterdam.Pieter A. F. M. Doevendans completed his training as a cardiologist in Maastricht. In 2004 he was appointed Professor of Translational Cardiology in the UMC Utrecht, the Netherlands.His research focus is on cardiac failure, cardiac stem cells and cardiogenetics.Arjan C Houweling is a clinical geneticist at the VU Medical Center in Amsterdam. He has been working in the field of cardiogenetics since 2007. His research in the field of cardiogenetics has been mainly focused on genetic aspects of Pulmonary Arterial Hypertension and on the genetic aspects of aortic disease.J. Peter van Tintelen is clinical geneticist and head of the department of Genetics at the UMC Utrecht, the Netherlands. His research focuses on identifying novel genes and mutations, early detection and understanding clinical variability in inherited cardiac diseases. In 2019 he was appointed Professor of Cardiogenetics.1802This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion.Clinical Cardiogeneticscompiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.1902Represents a practical cardiac genetics textbook for the clinician and trainee in cardiologyContains detailed information on disease-causing genesFeatures a bench-to-bedside approach to enable readers to appreciate future developments in this discipline060530001https://covers.springernature.com/boo...0101https://www.springer.com/978303045456201http://www.springer.com/01Springer Nature ImprintSPRSpringer0101SIPSpringer International Publishing01055251753Springer International PublishingChamCH0220200816202001WORLD080gr01279mm02210mm0303978331944202015978331944202001ISBN-13 hyphenated978-3-319-44202-0BB2703978303045457915978303045457901ISBN-13 hyphenated978-3-030-45457-9DG0603978303045459315978303045459301ISBN-13 hyphenated978-3-030-45459-3BCSpringer International Publishing01ROWNP102020081602Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00196.29EURDER72018020502Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00194.94EURFR2018020502Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00193.59EURIT2018020502Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00198.99EURATR102018020501Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00189.99EURROW2018020501Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB0016410.00INRIN2018020501Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00179.99GBPGB2018040102Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB001149.00AUDAU2018050601Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB001135.46AUDAU2018050602Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB001106.50CHFCHR2.52018100802Recommended Retail Price01BIC discount group codeASPVB002Product discount groupSPVB00198.09EURNL20190101Springer International Publishing01US02YNP102020081601Recommended Retail Price01BIC discount group codeADGNY602Product discount groupDGNY60189.99EURROW2018020501Recommended Retail Price01BIC discount group codeADGNY602Product discount groupDGNY601109.99USDUS20180205