Cardiovascular genetics and genomics : principles and clinical practice /: principles and clinical practice. (2018)

• Record Type: Book
• Further Information: Note: Dhavendra Kumar, Perry Elliott, editors.
• Editors: Kumar, Dhavendra; Elliott, Perry
• 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; 1.5.2.1 Autosomal Recessive; 1.5.2.2 Autosomal Dominant; 1.5.2.3 X-Linked Recessive. 1.5.2.4 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; 2.2.1.1 ICD10; 2.2.1.2 Online Inheritance in Man (OMIM); 2.2.1.3 Sequential Anatomical Classification; 2.2.2 Classification Based on Genetic Mechanism; 2.2.3 Classification Based on Molecular Pathway; 2.2.3.1 Ion Channelopathy; 2.2.3.2 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; 3.3.6.1 Possible Outcomes of Predictive Testing; 3.3.7 Genetic Testing in Children; 3.3.8 Consent for Genetic Testing; 3.3.8.1 Is Consent Required?; 3.3.8.2 Who Should Give Consent?; 3.3.8.3 Qualifying Relationships; 3.3.9 Living Child; 3.3.9.1 Deceased Child; 3.3.10 Have They Sufficient Information to Understand?
• Publisher Details: Cham : Springer
• Publication Date: 2018
• Extent: 1 online resource
• Subjects: 616.1/042; Medicine; Cardiovascular system -- Diseases -- Genetic aspects; Genomics; Pharmacogenomics; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Cardiovascular system -- Diseases -- Genetic aspects; Genomics; Pharmacogenomics; Medicine & Public Health; Cardiology; Human Genetics; Medical -- Genetics; Medical genetics; Cardiology; Human genetics; Medical -- Cardiology; Cardiovascular medicine; Electronic books; Electronic book
• Languages: English
• ISBNs: 9783319661148; 3319661140
• Related ISBNs: 9783319661124; 3319661124
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from PDF title page (EBSCO, viewed January 24, 2018).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.