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Genomic and molecular cardiovascular medicine
This comprehensive volume, 'Genomic and Molecular Medicine,' delves into the applications of genomic and precision medicine in clinical practice. Edited by Dhavendra Kumar and contributions from various experts, it covers foundational topics in genomic and molecular biology, exploring the human genome, genetic variations, and inheritance patterns. The book discusses advanced sequencing technologies, their role in diagnosing inherited conditions, and the genomic basis of heart and vascular diseases. It emphasizes the integration of genomics in understanding complex conditions like pulmonary arterial hypertension and myocarditis, and the role of metabolomics in cardiovascular health. This work is designed for medical professionals, researchers, and students in genomic medicine, aiming to enhance their understanding of the molecular mechanisms underlying various diseases and the emerging therapeutic strategies.
Front Cover -- Genomic and Molecular Cardiovascular Medicine -- Genomic and Molecular Cardiovascular Medicine -- Copyright -- Contents -- Contributors -- Foreword -- Preface -- 1 -- Introduction to genomic and molecular biology -- Introduction -- Basic facts -- Cell biology, nucleic acids, gene, genome -- Human genome -- Structure and functional organisation -- The mitochondrial genome -- Structure and function -- The morbid genome -- Genetic variation or genetic differences -- Coding and non-coding genome -- Epigenome -- Traditional inheritance -- Chromosomal -- Mendelian -- Autosomal recessive -- Autosomal dominant -- X-linked recessive -- X-linked dominant -- Mitochondrial -- Polygenic/multi-factorial -- Non-traditional inheritance -- Epigenetics/genetic imprinting/uniparental disomy -- Trinucleotide (triplet) repeats -- Non-allelic homologous recombination -- Digenic, oligogenic and multigenic inheritance -- Mosaicism -- Somatic and gonadal -- Summary -- Key learning points -- References -- Further reading -- 2 -- Genetic and genomic technologies for inherited cardiovascular conditions -- Introduction: What is 'next generation sequencing' and why we need it in inherited cardiovascular conditions -- Next-generation sequencing technologies -- General overview of the process -- Sample preparations -- DNA and RNA extraction -- DNA/RNA fragmentation -- Enrichment technologies -- Direct amplification technologies -- Sequencing process and equipment -- Bioinformatics analysis -- Base calling -- Demultiplexing -- Alignment -- Identification and annotation of the variants present in the sample -- Copy number variation analysis -- Variants annotation -- The interpretation of next-generation sequencing results -- Quality of the results and validation -- Pathogenicity of the identified variants -- Epidemiological information.
Information related to molecular biology -- Types of mutations -- Functional consequences of the mutations in terms of gain or loss of function -- Relevance of the regions and isoforms affected by the mutation -- Bioinformatics studies -- Functional studies and animal models -- Transcriptomics and proteomics: From genes to functional defects -- Clinical information -- Pre-test and post-test probabilities -- The yield of the tests -- Relation between yield of the test and experiment design: Panel, exome or whole-genome sequencing? -- Relation between yield of the test and clinical pre-test: Probability of finding a disease-causing mutation -- From diagnosis to prognosis -- References -- 3 -- Cardiovascular embryology and foetal heart development -- Introduction -- Genetics of cardiac development -- Use of animal models in the exploration of genetics of CHD -- Early embryological development -- Heart looping and creation of atria -- Valve development -- Formation of septa -- Outflow tract development -- Development of the myocardium and coronary vasculature -- Conclusions -- References -- 4 -- Genomic basis of heart rate and rhythm generation -- The cardiac conduction system -- The cardiac action potential -- The sinoatrial node -- Atrial cardiomyocyte impulse propagation -- Atrioventricular nodal conduction -- The His-Purkinje system -- The ventricular myocardium -- Ectopic rhythms -- Clinical implications -- Summary -- References -- 5 -- Molecular and immunological basis of pulmonary arterial hypertension and pulmonary veno-occlusive disease -- Introduction -- Molecular basis for pulmonary arterial hypertension and pulmonary veno-occlusive disease -- Histopathology in PAH and PVOD -- Alteration of vascular tone in PAH/PVOD -- PAH-specific drug therapy -- Cellular and molecular consequences of BMPRII mutations.
Molecular similarities between cancer and pulmonary arterial hypertension -- Immunological and cellular basis for pulmonary arterial and venous pulmonary hypertension -- Dysregulated immune responses in PAH and PVOD -- Innate immunity -- Macrophages -- Neutrophils -- Mast cells -- Natural killer cells -- Linking innate and adaptive immunity -- Dendritic cells -- Adaptive immunity -- T cells -- B cells and humoral immune responses -- Immunomodulatory therapy in PAH and PVOD -- Summary and conclusions -- References -- 6 -- Genetic and immunogenetic basis of myocarditis -- Introduction -- Definitions of myocarditis and of inflammatory cardiomyopathy -- Aetiopathogenesis of myocarditis -- Clinical presentation and diagnosis of myocarditis -- Myocarditis and genetics -- Infectious or post-infectious myocarditis and genetics -- Coxsackievirus B3- myocarditis and genetics -- Parvovirus B19 (B19V) myocarditis and genetics -- Human herpes virus 6 myocarditis and genetics -- Chagas disease (CD) and genetics -- Rheumatic fever (RF)/Rheumatic heart disease (RHD) and genetics -- Non-infectious myocarditis in systemic immune-mediated diseases and genetics -- Sarcoidosis and genetics -- Giant cell myocarditis and genetics -- Eosinophilic granulomatosis with polyangiitis (formerly Churg-Strauss syndrome) and genetics -- Single gene defects and myocarditis -- Immunity genes and infectious myocarditis -- Non-immunity genes associated with hereditary cardiomyopathies and myocarditis -- Autoimmunity as the missing link between genetic cardiomyopathies and myocarditis -- Conclusions -- References -- Further reading -- 7 -- Cardiovascular metabolomics -- Metabolomics -- Targeted and non-targeted -- Technology -- Samples -- Metabolite identification -- Data and analytic considerations -- Sources of metabolites relevant to cardiovascular system -- Gut microbiome.
Cardiovascular disorders and metabolomics -- Hypertension -- Cardiac hypertrophy -- Coronary artery disease -- Heart failure -- Cardiometabolic diseases -- Diabetes -- Insulin resistance/glucose homoeostasis -- Obesity -- Applications of cardiovascular metabolomics: Dietary modulation of the gut microbiome -- Fibre-rich diet -- Omega-3-rich diets -- Dairy products fermented or supplemented with beneficial bacteria -- References -- 8 -- Developmental disorders of the heart -- Introduction -- Genetic testing in CHD -- Aneuploidy and karyotyping -- Fluorescent in-situ hybridisation -- Array comparative genomic hybridisation -- Single nucleotide polymorphism array testing (SNP array) -- DNA point mutations -- Genomic sequencing -- Epigenetics and congenital heart disease -- Clinical approach to genetic assessment of CHD -- Foetal life -- Neonate and infant -- Older child/young person -- Adult -- Conclusions -- References -- Further reading -- 9 -- Application of molecular genetics to congenital vascular anomalies -- Clinical characteristics of vascular anomalies: example lymphatic malformations -- Lymphatic malformation related to syndromes -- Unexplained features of head and neck lymphatic malformations -- Genetic aetiology of head and neck lymphatic malformation -- Therapy for head and neck lymphatic malformations based on malformation genotype -- Conclusions -- Funding -- References -- 10 -- Aortic and arterial diseases (Aortopathies) -- The aorta -- Aortic aneurysm -- Syndromic thoracic aortic disorders -- Marfan syndrome -- Loeys-Dietz syndrome -- Meester-Loeys syndrome -- IPO8-mediated syndromic TAA -- Shprintzen-Goldberg syndrome -- Ehlers-Danlos syndrome -- Osteogenesis imperfecta -- Arterial tortuosity syndrome -- Lysyl oxidase -- LOX-mediated aortic aneurysm -- EFEMP2 (FBLN4) autosomal recessive cutis laxa type 1B.
eidted by Dhavendra Kumar, Arthur A.M. Wilde, and Perry Mark Elliott.
Includes bibliographical references and index.
Genomic and precision medicine in clinical practice