UID:
almahu_9949767123202882
Format:
1 online resource (462 pages)
Edition:
1st ed.
ISBN:
0-12-822920-9
Series Statement:
Genomic and Precision Medicine in Clinical Practice Series
Note:
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.
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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.
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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.
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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.
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Other syndromic TAA causes: ABL1, ARIH1, EP300, FLNA, SMAD4 and EMILIN1 -- BAV-related TAA -- Non-syndromic TAA -- Aortic aneurysmal disease-related mechanisms -- Extracellular matrix homeostasis -- VSMC contractile unit function -- TGFβ signaling pathway -- NO-sGC-PRKG signaling in TAAD -- VSMC mitochondrial dysfunction in TAAD -- Inflammation in TAAD -- Molecular diagnostics -- Conclusion and future perspectives -- References -- 11 - Collagenopathies - The Ehlers-Danlos syndromes -- The Ehlers-Danlos syndromes, a general introduction -- Clinical hallmarks of the Ehlers-Danlos syndromes -- Vascular Ehlers-Danlos syndrome -- The 'typical' presentation of vascular EDS -- Defects in type III collagen that result in 'atypical' vEDS phenotypes -- Classical EDS -- Classical EDS due to type V collagen defects -- Classical-like EDS variants due to atypical variants in type I procollagen -- Classical-like EDS due to proα1(I) p.Arg312Cys substitution -- Collagen I-related overlap disorder (C1ROD), arthrochalasia and dermatosparaxis type of EDS -- Cardiac-valvular type of EDS -- Kyphoscolitic EDS -- Kyphoscoliotic EDS due to LH1 deficiency -- Kyphoscoliotic EDS due to FKBP22 defects -- EDS types caused by defects in non-collagenous ECM molecules -- Diagnostic approach -- Funding Information -- References -- 12 - Collagenopathies: Osteogenesis imperfecta and related disorders -- Aetiology of OI -- Classification of OI -- Genetics of OI -- Clinical manifestations in OI -- Main clinical features in OI -- Extra-skeletal features -- Diagnosis in OI -- Management in OI -- References -- Further reading -- 13 - Cardiomyopathies - Inherited subtypes and phenocopies -- Introduction -- Hypertrophic cardiomyopathy -- Definition and epidemiology -- Genetic background -- Functional anatomy -- The role of the sarcomere in pathophysiology.
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Genetic architecture of the sarcomere.
Additional Edition:
ISBN 0-12-822951-9
Language:
English
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