| Description |
1 online resource |
| 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 |
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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;? |
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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 |
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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 |
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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? |
| 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 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Online resource; title from PDF title page (EBSCO, viewed January 24, 2018) |
| Subject |
Cardiovascular system -- Diseases -- Genetic aspects
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Genomics.
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Pharmacogenomics.
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Cardiovascular Diseases -- genetics
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Genomics -- methods
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Genomics
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Medical genetics.
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Cardiovascular medicine.
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Cardiovascular system -- Diseases -- Genetic aspects
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Genomics
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Pharmacogenomics
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| Form |
Electronic book
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| Author |
Kumar, Dhavendra, editor
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Elliott, Perry, editor
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| ISBN |
9783319661148 |
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3319661140 |
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9783319661131 |
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3319661132 |
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9783319881799 |
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3319881795 |
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