Kooperativer Bibliotheksverbund

UID:

Format: 1 online resource (623 pages) : , illustrations, tables

ISBN: 9780199709182 (e-book)

Additional Edition: Print version: Principles and practice of clinical cardiovascular genetics. Oxford, [England] : Oxford University Press, c2010 ISBN 9780195368956

Language: English

Keywords: Electronic books.

URL: Click to View

UID:

Format: 1 Online-Ressource (XIX, 920 p. 164 illus., 110 illus. in color).

ISBN: 978-3-319-66114-8

Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-319-66112-4

Language: English

DOI: 10.1007/978-3-319-66114-8

URL: Volltext  (URL des Erstveröffentlichers)

UID:

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. , 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. , 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. , Genetic architecture of the sarcomere.

Additional Edition: ISBN 0-12-822951-9

Language: English

UID:

Format: XIX, 920 p. 164 illus., 110 illus. in color. , online resource.

ISBN: 9783319661148

Content: 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.

Note: Introduction to Genes, Genome and Inheritance -- Elements of Clinical Cardiovascular Genetics: Spectrum and Classification -- Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions -- Genetic and Genomic Technologies: Next Generation Sequencing for Inherited Cardiovascular Conditions -- Pharmacogenetics and pharmacogenomics in cardiovascular medicine and surgery -- Congenital Cardiovascular Disorders including Adult Congenital Heart Disease -- Inherited cardiovascular metabolic disorders -- Mitochondrial cardiovascular diseases -- Inherited Cardiac Muscle Disorders: Hypertrophic and Restrictive Cardiomyopathies -- Inherited Cardiac Muscle Disorders: Dilated Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Arrhythmogenic Right Ventricular Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction -- Inherited arrhythmias: LQTS/SQTS/CPVT -- Inherited arrhythmias: Brugada syndrome and early repolarisation syndrome -- Inherited Conduction Disease and Atrial Fibrillation -- Cardiovascular manifestations in Duchenne/Becker muscular dystrophy and other primary myopathies -- Inherited cardiac amyloidosis -- Cardiovascular manifestations of inherited myotonias -- Marfan syndrome and related inherited aortopathies -- Cardiovascular manifestations in inherited connective tissue disorders -- Thoracic aortic dilatation, aneurysm and dissection -- Genetics and genomics of coronary artery disease -- Cardiovascular manifestations of immune-mediated inflammatory Disorders -- Genetics and Genomics of Stroke -- Genetics and genomics of systemic hypertension -- Inherited pulmonary arterial hypertension -- Genetics and Genomics of Sudden Unexplained Cardiac Death -- Specific issues in clinical genetics and genetic counselling practices related to inherited cardiovascular conditions -- Multidisciplinary management for inherited cardiovascular conditions -- Internal devices and interventions for inherited cardiac conditions -- Inherited cardiovascular conditions: phenotype-genotype data mining and sharing; databases.

In: Springer eBooks

Additional Edition: Printed edition: ISBN 9783319661124

Language: English

DOI: 10.1007/978-3-319-66114-8

URL: http://dx.doi.org/10.1007/978-3-319-66114-8

UID:

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. , 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. , 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. , Genetic architecture of the sarcomere.

Additional Edition: ISBN 0-12-822951-9

Language: English

UID:

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. , 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. , 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. , Genetic architecture of the sarcomere.

Additional Edition: ISBN 0-12-822951-9

Language: English

UID:

Format: 1 Online-Ressource (XIX, 920 p. 164 illus., 110 illus. in color).

ISBN: 978-3-319-66114-8

Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-319-66112-4

Language: English

DOI: 10.1007/978-3-319-66114-8

URL: Volltext  (URL des Erstveröffentlichers)

UID:

Format: 1 Online-Ressource (XIX, 920 p. 164 illus., 110 illus. in color).

ISBN: 978-3-319-66114-8

Additional Edition: Erscheint auch als Druck-Ausgabe ISBN 978-3-319-66112-4

Language: English

DOI: 10.1007/978-3-319-66114-8

URL: Volltext  (URL des Erstveröffentlichers)

UID:

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. , 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. , 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. , Genetic architecture of the sarcomere.

Additional Edition: ISBN 0-12-822951-9

Language: English

UID:

Format: 1 online resource (623 p.)

Edition: 1st ed.

ISBN: 0-19-970918-1

Note: Description based upon print version of record. , Contents; Contributors; Introduction: The Challenges of Inherited Cardiovascular Conditions; PART I: GENERAL ASPECTS OF CARDIOVASCULAR GENETICS; 1. Development of the Heart; 2. The Molecular Basis of Cardiovascular Development; 3. The Classification of Inherited Cardiovascular Conditions; 4. Genetic Epidemiology of Cardiovascular Diseases; 5. Cytogenetic Testing in Cardiovascular Genetics; 6. Molecular Diagnosis in Cardiovascular Genetics; 7. Cardiac Magnetic Resonance Imaging in Cardiovascular Genetics; 8. Ultrasound Imaging in Cardiovascular Genetics , PART II: SPECIFIC CARDIOVASCULAR GENETIC DISORDERS9. Congenital Cardiovascular Malformations; 10. Malformation Syndromes with Heart Disease; 11. Marfan Syndrome and Related Disorders; 12. Thoracic and Abdominal Aortic Aneurysms; 13. Hypertrophic, Dilated, and Restrictive Cardiomyopathies; 14. Arrhythmogenic Right Ventricular Cardiomyopathy; 15. Ventricular Noncompaction; 16. Molecular Genetics of Arrhythmias; 17. The Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia; 18. Acquired Repolarization Disorders; 19. Brugada Syndrome , 20. Inherited Conduction Disease and Familial Atrial Fibrillation21. Familial Hypercholesterolemia; 22. Genetics of Coronary Artery Disease; 23. Genetics of Essential Hypertension; 24. Stroke; 25. Pulmonary Arterial Hypertension; 26. The Heart and Inherited Metabolic Disease; 27. Heart and Neuromuscular Disease; 28. Cardiovascular Complications in Ehlers-Danlos Syndromes; 29. The Heart in the Inherited Diseases of Hemoglobin and the Hemochromatosis Syndromes; 30. Familial Amyloidoses and the Heart; 31. Cardiac Involvement in Mitochondrial Disease; 32. Inherited Cardiac Tumors , PART III: MANAGEMENT OF CARDIOVASCULAR GENETIC DISEASES33. The Sudden Arrhythmic Death Syndrome; 34. Cardiovascular Pharmacogenomics; 35. Stem Cell Therapy in Cardiovascular Medicine; 36. Genetic Counseling in Cardiovascular Genetics; 37. Social and Ethical Issues in Cardiovascular Genetics; 38. The Forensic Pathologist and Genetic Cardiovascular Disease; 39. Provision of Clinical Cardiovascular Genetics Services; Glossary-Commonly Used Terms and Phrases in Cardiovascular Genetics; A; B; C; D; E; F; G; H; I; K; L; M; N; O; P; R; S; T; U; V; W; X; Y; Z; Index; A; B; C; D; E; F; G; H; I; J; K , LM; N; O; P; Q; R; S; T; U; V; W; X; Y; Z , English

Additional Edition: ISBN 0-19-536895-9

Language: English