Cardiovascular Genetics and Genomics in Clinical Practice.

Cover -- Title -- Copyright -- Contents -- Contributors -- Preface -- References -- Video Captions -- Share Cardiovascular Genetics and Genomics in Clinical Practice -- Part I: Genetics and Genomics: The Basics -- Chapter 1: Mendelian Genetics -- Take Home Points -- Mendel's Laws -- Modes of Inheritance -- Methods Used to Determine Modes of Inheritance -- Clinical Utility of Genetic Information -- Glossary -- References -- Chapter 2: Genetics of Complex Traits -- Take Home Points -- Quantitative Traits -- Familial Aggregation -- Measuring Familial Aggregation -- Concordance Versus Discordance -- Allele Sharing -- Twin Studies -- Concordance of MZ Versus DZ Twins -- Twins Reared Apart -- Limitations of Twin Studies -- Heritability -- Conclusions -- References -- Chapter 3: Genome-Wide Association Studies -- Take Home Points -- Why do we Need GWAS? -- Genetic Basis of GWAS -- Simple GWAS -- Beyond GWAS Basics: Challenges and Limitations -- Limitations of GWAS -- Using GWAS Results -- GWAS Success in Cardiovascular Disease -- Summary -- Glossary -- References -- Chapter 4: Bioinformatics -- Take Home Points -- Following Up on Linkage Analyses -- Following Up on Genome-Wide Association Studies -- Obtaining Information on Candidate Genes -- Characterizing DNA Variants Found within Genes -- References -- Chapter 5: Epigenetics -- Take Home Points -- DNA Methylation -- Histone Modifications -- Challenges and Opportunities for Human CVD Epigenetic Studies -- References -- Chapter 6: MicroRNAs -- Take Home Points -- MicroRNA Structure and Function -- MicroRNA and Cardiac Function -- MicroRNA as Biomarkers -- MicroRNA Therapeutics -- Conclusions -- References -- Chapter 7: Gene Expression -- Take Home Points -- Microarray Technology -- Quality Control -- Data Normalization -- Data Analysis -- Ontology and Pathway Analysis -- Validation and Meta-Analysis.

Conclusions -- References -- Chapter 8: Whole-Exome and Whole-Genome Sequencing -- Take Home Points -- Overview of Exome Chip, WES, and WGS Technologies -- Available Strategies for the Conduct of WES Studies -- Application of WES to Cardiovascular Disease -- Next-Generation Sequencing Technologies for Clinical Diagnostics -- Future Directions -- Conclusions -- References -- Chapter 9: Gene-Environment Interactions -- Take Home Points -- Defining Interactions -- Investigating Interactions: Study Design -- Investigating Interactions: Statistical Power -- Gene-Environment Interactions in Cardiovascular Disease -- The Promise and Challenges of Gene-Environment Interaction Research -- Summary -- References -- Chapter 10: Genetic Counseling -- Take Home Points -- Definition of Genetic Counseling -- The Power of the Pedigree and Family Health History -- Risk Assessment Beyond Basic Mendelian Principle -- Psychosocial Counseling -- Genetic Counselors in Cardiovascular Practice -- Cardiovascular Genetic Testing -- Partners in Practice -- Conclusions -- References -- Part II: Genetics of Cardiovascular Disorders/Traits -- Chapter 11: Blood Pressure Genomics -- Take Home Points -- Case Study: Severe Monogenic Hypertension-An Application of Whole-Exome Sequencing -- Monogenic BP Disorders -- Genomics of BP as a Complex Trait -- The Future of BP Genomics Research -- Conclusions -- References -- Chapter 12: Genetics of Electrocardiographic Traits -- Take Home Points -- Case Presentation -- Genetic Architecture of Complex ECG Traits -- Ion-Channel Candidate Genes Associated with ECG Traits -- Loci Associated with the PR Interval -- Loci Associated with the QRS Interval -- Loci Associated with the QT Interval -- Loci Associated with Early Repolarization -- Loci Associated with Heart Rate (RR Interval) -- Case Resolution -- Conclusions -- References.

Chapter 13: Atrial Fibrillation Genetics and Genomics -- Take Home Points -- Case Study -- AF Heritability and Genetic Basis for AF -- AF Risk Prediction -- Future Directions -- "Omics" of AF -- Systems Biology-Application to AF -- From the Bench to the Bedside: Integrating Genetic Information into Clinical Practice -- Conclusions -- References -- Chapter 14: Inherited Ventricular Arrhythmias -- Take Home Points -- Case Study -- Long QT Syndrome (LQTS) -- Brugada Syndrome (BrS) -- Catecholaminergic Polymorphic VT (CPVT) -- Short QT Syndrome (SQTS) -- Conclusions -- References -- Chapter 15: Genetics of Cardiac Structure and Function -- Take Home Points -- Case Studies -- Why Study the Genetics of Cardiac Structure and Function? -- Challenges of Accurate Phenotyping of Cardiac Structure and Function -- Heritability of Indices of Cardiac Structure and Function -- Genetics of Cardiac Structure and Function: Published Studies -- Future Directions -- Conclusions -- References -- Chapter 16: Genetics of Heart Failure -- Take Home Points -- Case Study -- Genetic Basis of Cardiomyopathies -- The Genetic Basis of Idiopathic DCM and Heart Failure at the Population Level (Heart Failure as Polygenic Trait) -- Additional Molecular Investigations to Gain Insight into the Biological Basis of Heart Failure Risk -- Summary -- References -- Chapter 17: Inherited Cardiomyopathies -- Take Home Points -- Case Study -- Hypertrophic Cardiomyopathy -- Metabolic Cardiomyopathies -- Restrictive Cardiomyopathy -- Dilated Cardiomyopathy -- Left Ventricular Noncompaction -- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy -- The Future of Genetics in Cardiomyopathy Research and Clinical Practice -- References -- Chapter 18: Genetics of Pulmonary Hypertension -- Take Home Points -- Case Study -- Overview of Pulmonary Hypertension.

Overview of Pulmonary Hypertension Genetics -- BMPR2 And TGF-BETA -- Caveolin-1 -- Cerebellin-2 -- Prostacyclin -- Calcium Signaling -- Nitric Oxide and Reactive Oxygen Species -- Endothelin-1 -- Sex Hormones -- Serotonin -- Kv Channels -- Nongroup I PH and Other Pathways -- Encode Era -- MRNA Expression Profiling -- MicroRNA Expression Profiling -- Epigenetics -- Genetic Testing -- Conclusions -- References -- Chapter 19: Genetics of Blood Lipids, Lipoproteins, and Related Phenotypes -- Take Home Points -- Case Study -- Single-Gene Lipid Diseases -- Complex Diseases and Phenotypes -- Sequencing Studies and the Role of Rare Variants -- Epigenetics -- Refining Lipid Phenotypes -- Conclusions -- References -- Chapter 20: Genetic Applications in Coronary Artery Disease -- Take Home Points -- Case Study #1 -- Tier 1: Genetic Testing in Familial Hypercholesterolemia -- Case Study #2 -- Tier 2 Applications: Pharmacogenomics -- Case Study #3 -- Tier 3 Applications: Cad Genetic Risk Factors -- Future Directions -- Conclusions -- References -- Chapter 21: Genetics of Valvular Heart Disease -- Take Home Points -- Case Study -- Aortic Valve Disease -- Mitral Valve Disease -- Conclusions -- References -- Chapter 22: Genetics of Congenital Heart Disease -- Take Home Points -- Cardiac Malformations Associated with Chromosomal Aneuploidy -- Syndromic and Nonsyndromic CHD Associated with Single-Gene Mutations -- Copy Number Variations in Congenital Heart Disease -- The Role of Single Nucleotide Polymorphisms in Congenital Heart Disease -- Future Directions -- Clinical Applications -- References -- Index.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.