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Title Cardiovascular genetics and genomics : principles and clinical practice / Dhavendra Kumar, Perry Elliott, editors.

Published Cham : Springer, 2018.


Location Call No. Status
Physical description 1 online resource
Series Springer Medicine eBooks 2018 English+International
Bibliography Includes bibliographical references and index.
Contents Intro; Foreword; Preface; Contents; Contributors; 1: Introduction to Genes, Genome and Inheritance; 1.1 Introduction; 1.2 Basic Facts: Cell Biology, Nucleic Acids, Gene, Genome; 1.2.1 Human Genome: Structure and Functional Organization; 1.3 The Mitochondrial Genome: Structure and Function; 1.4 The Morbid Genome; 1.4.1 Genetic Variation or Genetic Differences; 1.4.2 Coding and Non-Coding Genome; 1.4.3 Epigenome; 1.5 Traditional Inheritance; 1.5.1 Chromosomal; 1.5.2 Mendelian; Autosomal Recessive; Autosomal Dominant; X-Linked Recessive. X-Linked Dominant1.5.3 Mitochondrial; 1.6 Polygenic/Multi-Factorial; 1.7 Nontraditional Inheritance; 1.7.1 Epigenetics/Genetic Imprinting/Uniparental Disomy; 1.7.2 Trinucleotide (Triplet) Repeats; 1.7.3 Nonallelic Homologous Recombination; 1.8 Digenic, Oligogenic and Multigenic Inheritance; 1.9 Mosaicism: Somatic and Gonadal; References; Suggested Reading; 2: Spectrum and Classification of Inherited Cardiovascular Disease; 2.1 Introduction: Why Classification is Challenging; 2.1.1 Are You a â#x80;#x98;Lumperâ#x80;#x99; or a â#x80;#x98;Splitterâ#x80;#x99;?
2.1.2 The Central Paradigm: A Simple Disease Model2.2 Current Classification Systems; 2.2.1 Classification Based on Pathology/Anatomy/Physiology; ICD10; Online Inheritance in Man (OMIM); Sequential Anatomical Classification; 2.2.2 Classification Based on Genetic Mechanism; 2.2.3 Classification Based on Molecular Pathway; Ion Channelopathy; Familial Cardiomyopathy; Familial Hypertrophic Cardiomyopathy (fHCM); Heterogeneity in Dilated Cardiomyopathy: Multiple Molecular Mechanisms; Laminopathy; Titinopathy.
Limb Girdle Muscular Dystrophies (LGMD)Metabolic Disorders; Right Ventricular Cardiomyopathy and Desmosomal Diseases; Familial Thoracic Aneurysm/Dissection; 2.3 The Future: Combining Classification Systems; 2.4 Summary; References; 3: Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions; 3.1 Introduction; 3.2 Family History; 3.2.1 Information Gathering; 3.2.2 Inheritance Patterns; 3.2.3 Red Flags; 3.2.4 Conduction Disease; 3.2.5 Alternative Inheritance and Other Non-Cardiac Features; 3.3 Genetic Testing; 3.3.1 Diagnostic Genetic Testing.
3.3.2 When to Offer a Diagnostic Test?3.3.3 Who Should Have a Diagnostic Test?; 3.3.4 What Type of Sample to Test?; 3.3.5 Possible Outcomes of Diagnostic Testing in an Affected Family Member; 3.3.6 Predictive Genetic Testing; Possible Outcomes of Predictive Testing; 3.3.7 Genetic Testing in Children; 3.3.8 Consent for Genetic Testing; Is Consent Required?; Who Should Give Consent?; Qualifying Relationships; 3.3.9 Living Child; Deceased Child; 3.3.10 Have They Sufficient Information to Understand?
Summary This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Other author Kumar, Dhavendra, editor.
Elliott, Perry, editor.
SpringerLink issuing body.
Subject Cardiovascular system -- Diseases -- Genetic aspects.
Electronic books.
Electronic book.
ISBN 9783319661148 (electronic bk.)
3319661140 (electronic bk.)
Standard Number 10.1007/978-3-319-66114-8