Format:
1 Online-Ressource (921 pages)
ISBN:
9783319661148
Content:
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 Dominant -- 1.5.3 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 'Lumper' or a 'Splitter'? -- 2.1.2 The Central Paradigm: A Simple Disease Model -- 2.2 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
Content:
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? -- 3.3.11 How Will the Consent Be Recorded? -- 3.3.12 Scope of Consent -- 3.3.13 Consent to Share Information -- 3.3.14 Withdrawal of Consent -- 3.4 Reproductive Genetic Testing -- 3.5 Insurance and Genetic Testing -- 3.6 Psychological Implications of Inherited Cardiac Conditions -- 3.6.1 Information -- 3.6.2 Uncertainty -- 3.6.3 Bereavement and Grief -- 3.6.3.1 Five Stages of Grief -- 3.7 Family Communication -- 3.7.1 Impact on Family Relationships -- 3.7.2 Support -- 3.7.3 Multiple Bereavements -- 3.7.4 Adjustment: Living with Risk -- References -- 4: Genetic and Genomic Technologies: Next Generation Sequencing for Inherited Cardiovascular Conditions
Content:
4.1 Introduction: What Is "Next Generation Sequencing" and Why We Need It in Inherited Cardiovascular Conditions -- 4.2 Next Generation Sequencing Technologies -- 4.2.1 General Overview of the Process -- 4.2.2 Sample Preparations -- 4.2.2.1 DNA, RNA Extraction -- 4.2.2.2 DNA/RNA Fragmentation -- 4.2.2.3 Enrichment Technologies -- 4.2.2.4 Direct Amplification Technologies -- 4.2.3 Sequencing Process and Equipment -- 4.2.4 Bioinformatics Analysis -- 4.2.4.1 Base Calling -- 4.2.4.2 Demultiplexing -- 4.2.4.3 Alignment -- 4.2.4.4 Identification and Annotation of the Variants Present in the Sample -- 4.2.4.5 Copy Number Variation Analysis -- 4.2.4.6 Variants Annotation -- 4.3 The Interpretation of Next Generation Sequencing Results in Inherited Cardiovascular Conditions -- 4.3.1 Quality of the Results and Validation -- 4.3.2 Pathogenicity of the Identified Variants -- 4.3.3 Epidemiological Information -- 4.3.4 Information Related to Molecular Biology -- 4.3.4.1 Types of Mutations -- 4.3.4.2 Functional Consequences of the Mutations in Terms of Gain or Loss of Function -- 4.3.4.3 Relevance of the Regions and Isoforms Affected by the Mutation -- 4.3.4.4 Bioinformatics Studies -- 4.3.4.5 Functional Studies and Animal Models -- 4.4 Clinical Information -- 4.4.1 Pre-Test and Post-Test Probabilities -- 4.4.2 The Yield of the Tests -- 4.4.2.1 Relation Between Yield of the Test and Experiment Design: Panel, Exome or Whole Genome Sequencing? -- 4.4.2.2 Relation Between Yield of the Test and Clinical Pre-Test Probability of Finding a Disease Causing Mutation -- 4.4.3 From Diagnosis to Prognosis -- References -- 5: Pharmacogenetics and Pharmacogenomics in Cardiovascular Medicine and Surgery -- 5.1 Introduction -- 5.2 Warfarin -- 5.2.1 Case Study -- 5.2.2 Overview -- 5.2.2.1 VKORC1 -- 5.2.3 Cytochrome P450 -- 5.2.3.1 CYP2C9
Content:
5.2.3.2 CYP4F2 -- 5.2.4 Other Warfarin Pharmacogenomic Genes -- 5.2.5 Direct-Acting Oral Anticoagulants -- 5.2.6 Clinical Utility -- 5.3 Statins -- 5.3.1 Case Study -- 5.3.2 Overview -- 5.3.2.1 SLCO1B1 -- 5.3.2.2 HLA-DRB1*11:01 -- 5.3.3 Other Candidate Genes -- 5.3.4 Statin Efficacy -- 5.3.5 Clinical Utility -- 5.4 Clopidogrel -- 5.4.1 Case Study -- 5.4.2 Overview -- 5.4.2.1 CYP2C19 -- 5.4.2.2 CES1 -- 5.4.2.3 ABCB1 -- 5.4.3 Newer P2Y12 Antagonists -- 5.4.4 Clinical Utility -- 5.4.5 Beta-Blockers -- 5.4.5.1 ADRB1 -- 5.4.5.2 GRK4 -- 5.4.5.3 CYP2D6 -- 5.4.6 Clinical Utility -- 5.5 Antiarrhythmics -- 5.5.1 Atrial Fibrillation -- 5.5.2 Torsade de Pointes -- 5.5.3 Clinical Utility -- 5.6 Renin-Angiotensin System Inhibitors -- References -- 6: Congenital Cardiovascular Disorders -- 6.1 Introduction -- 6.2 Genetic Testing -- 6.2.1 Aneuploidy and Karyotyping -- 6.2.2 Fluorescent In-Situ Hybridisation (FISH) -- 6.2.3 Array Comparative Genomic Hybridisation (aCGH) -- 6.2.4 DNA Point Mutations -- 6.2.5 Genomic Sequencing -- 6.3 Epigenetics and Congenital Heart Disease -- 6.4 Clinical Approach to Genetic Assessment of CHD -- 6.4.1 Fetal Life -- 6.4.2 Neonate and Infant -- 6.4.3 Older Child/Young Person -- 6.4.4 Adult -- References -- 7: Inherited Cardiovascular Metabolic Disorders -- 7.1 Introduction -- 7.2 Investigations -- 7.2.1 PRKAG2 Syndrome -- 7.2.2 Management -- 7.2.3 Pompe Disease (Glycogen Storage Disease Type II) -- 7.2.4 Management -- 7.2.5 Danon Disease -- 7.2.5.1 Management -- 7.2.6 Disorders of Fatty Acid Metabolism -- 7.2.6.1 Management -- Carnitine Supplementation -- Dietary Modifications -- 7.2.7 Acute Decompensation -- 7.2.8 The Mucolipidoses -- 7.2.8.1 Management -- 7.2.9 Fabry Disease -- 7.2.10 Cardiac Variant Fabry Disease -- 7.2.10.1 Genotype-Phenotype Correlations
Content:
7.2.10.2 Management -- 7.2.11 Mitochondrial Diseases -- 7.2.12 Congenital Disorders of Glycosylation -- 7.2.13 Alkaptonuria -- 7.2.13.1 Management -- 7.2.14 Homocystinuria -- 7.2.14.1 Management -- 7.2.15 Sitosterolemia -- 7.2.15.1 Management -- 7.2.16 Genetic Counselling for Inherited Disorders of Metabolism -- 7.2.17 Prenatal Testing and Preimplantation Genetic Diagnosis -- References -- 8: Mitochondrial Cardiovascular Diseases -- 8.1 General Introduction -- 8.2 Mitochondrial Biology and the Genetic Basis of Mitochondrial Disease -- 8.3 Clinical Evaluation of Mitochondrial Disease -- 8.3.1 General Clinical Investigations -- 8.3.2 Specific Investigations for Mitochondrial Disease -- 8.3.3 Molecular Genetic Investigations -- 8.4 Clinical Management of Mitochondrial Diseases -- 8.5 Cardiac Features of Mitochondrial Disease -- 8.5.1 Hypertrophic Cardiomyopathy -- 8.5.2 Dilated Cardiomyopathy -- 8.5.3 Left Ventricular Non-Compaction -- 8.5.4 Electropathies -- 8.5.4.1 Bradyarrhythmias -- 8.5.4.2 Tacchyarrythmias -- 8.6 Cardiac Manifestations in Common Mitochondrial Syndromes -- 8.6.1 Kearns-Sayre Syndrome (KSS) -- 8.6.2 m.3243A〉G -- 8.6.3 m.8344A〉G -- 8.6.4 m.8993T〉G/C -- 8.6.5 LHON -- 8.6.6 Barth Syndrome -- 8.6.7 Sengers Syndrome -- 8.7 Cardiac Investigations in Mitochondrial Diseases -- 8.7.1 Initial Screening -- 8.7.2 Advanced Imaging Techniques -- 8.7.3 Cardiac Biopsy -- 8.7.4 Cardiac Surveillance -- 8.8 Treatment of Mitochondrial Cardiac Disease -- 8.8.1 Cardiomyopathies -- 8.8.2 Electrophysiological Management of Arrhythmias and Conduction Defects -- 8.8.3 Transplantation -- 8.9 Summary and Future Developments -- References -- 9: Inherited Cardiac Muscle Disorders: Hypertrophic and Restrictive Cardiomyopathies -- 9.1 Introduction -- 9.2 Hypertrophic Cardiomyopathy -- 9.2.1 Etiology
Content:
9.2.2 Cardiac Pathology in HCM
Additional Edition:
9783319661124
Additional Edition:
Print version Kumar, Dhavendra Cardiovascular Genetics and Genomics : Principles and Clinical Practice Cham : Springer,c2018 9783319661124
Language:
English
URL:
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