Congenital Heart Diseases : Clinical Features, Human Genetics and Molecular Pathways

• Autore: Rickert-Sperling Silke
• Pubblicazione: Cham : , : Springer International Publishing AG, , 2024; ©2024
• Edizione: 2nd ed.
• Descrizione fisica: 1 online resource (1098 pages)
• Disciplina: 616.12043
• Altri autori: KellyRobert G HaasNikolaus
• Nota di contenuto: Intro -- Foreword of the 1st Edition -- Foreword of the 2nd Edition -- Preface -- Contents -- Contributors -- List of Abbreviations -- Part I: Introduction -- 1: Human Cardiac Development -- 1.1 Introduction -- 1.1.1 Sharing of Digitized Collections Allows for Higher-Quality Data -- 1.1.2 Sources of Additional Information -- 1.1.3 A Combination of Text and Three-Dimensional (3D) Images Is Necessary for Effective Communication -- 1.1.4 This Study -- 1.2 Formation of the Single Heart Tube (CS9-CS10) -- 1.2.1 Formation of Bilateral Heart Anlagen -- 1.2.2 Appearance of the Vascular Network and Myocyte Contractility -- 1.2.3 The Single Cardiac Tube -- 1.2.4 The Pericardial Cavity and the Transverse Septum -- 1.3 Looping of the Heart (CS10-CS12) -- 1.3.1 Asymmetry of the Loop -- 1.3.2 Elongation of the Loop -- 1.3.3 Chirality of the Heart Loop -- 1.4 Formation of the Cardiac Compartments (CS11-CS14) -- 1.4.1 Cardiac Compartments Originate by ``Ballooning´´ of the Heart Tube -- 1.4.2 Formation of Ventricular Trabeculations -- 1.4.3 Development of the Pectinate Muscles of the Atriums -- 1.4.4 Formation of the Muscular Ventricular Septum -- 1.4.5 Formation of the Definitive Left and Right Ventricles -- 1.4.6 The Conduction System -- 1.4.6.1 The Sinus Node -- 1.4.6.2 The Atrioventricular Node -- 1.4.6.3 The Ventricular Conduction System -- 1.4.7 Appearance of the Coronary Vessels -- 1.4.7.1 The Proepicardial Organ -- 1.4.7.2 Formation of the Coronary Arteries -- 1.4.7.3 Development of the Coronary Arterial Walls -- 1.4.7.4 Formation of the Cardiac Veins -- 1.5 Septation of the Heart (CS14-CS20) -- 1.5.1 The Phylotypic Stage and the Onset of Septation -- 1.5.2 Structural Changes in the Preseptational Heart -- 1.5.3 Septation of the Venous Pole -- 1.5.3.1 Septation of the Veins -- The Fate of the Left Cranial Cardinal Vein -- 1.5.3.2 The Atrial Septum. ; 1.5.3.3 Atrioventricular Septation -- 1.5.3.4 Growth of the Ventricles and Formation of the Muscular Ventricular Septum -- 1.5.4 Septation of the Arterial Pole -- 1.5.4.1 Development of the Temporary Arteries of the Cranial Pharyngeal Arches -- 1.5.4.2 Development of the Permanent Caudal Arch Arteries -- 1.5.4.3 The Fate of the Dorsal Aortas -- 1.5.4.4 The Growth Pattern of the Early Outflow Tract -- 1.5.4.5 The Remarkable Subsequent Change in the Shape of the Late Outflow Tract -- 1.5.4.6 Invasion of Neural Crest Cells and Establishment of Spiraling Ridges -- 1.5.4.7 Formation of the Aortopulmonary Septum in the Distal Outflow Tract -- 1.5.4.8 Septation of the Middle Outflow Tract -- 1.5.4.9 Formation of the Non-Myocardial Intercalated Ridges (or Tongues) and Swellings -- 1.5.4.10 Appearance of the Arterial Trunks -- 1.5.4.11 The ``Arterial´´ Epicardium -- 1.5.4.12 The Arterial Valves -- 1.5.4.13 Septation of the Proximal Outflow Tract -- 1.5.4.14 Formation of the Supraventricular Crest and Free-Standing Infundibulum -- 1.5.5 The Final Step in Septation -- 1.5.5.1 The Changing Shape of the Interventricular Foramen -- 1.5.5.2 Formation of the Membranous Septum -- 1.6 Coda -- 1.6.1 Accuracy of the Assignments of Stages to Successive Phases of Heart Development -- 1.6.2 Carnegie Stages 1-18 Obey Different Criteria than do Stages 19-23 -- 1.6.3 Accuracy of the Assignments of Stages to Developmental Events -- References -- 2: Human Genetics of Congenital Heart Defects -- 2.1 Introduction -- 2.2 Patterns of Inheritance and the Etiology of CHD -- 2.3 Single-Gene Variants and CHD -- 2.4 Structural Variants as a Cause of CHD -- 2.5 Reduced Penetrance and Other Mechanisms -- 2.6 Techniques and Benefits of Genetic Testing -- 2.7 Limitations of Genetic Testing -- 2.8 Future Challenges -- 2.9 Summary -- References. ; 3: Cardiac Development and Animal Models of Congenital Heart Defects -- 3.1 Introduction -- 3.2 From the Cardiac Crescent to the Embryonic Heart Tube -- 3.3 Ballooning Morphogenesis and Cardiac Septation -- 3.4 Development of the Conduction System and Coronary Circulation -- 3.5 Animal Models of Heart Development -- References -- 4: Normal Cardiac Anatomy and Clinical Evaluation -- 4.1 Introduction to Normal Heart Anatomy -- 4.1.1 Venous Return to the Heart -- 4.1.2 The Atria -- 4.1.3 The Atrioventricular (AV) Valves -- 4.1.4 The Ventricles -- 4.1.5 The Semilunar Valves -- 4.1.6 The Great Arteries -- 4.1.7 The Coronary Arteries -- 4.1.8 The Electrical System -- 4.2 Techniques, History, and Physical Examination -- 4.2.1 History -- 4.2.2 Physical Examination -- 4.2.3 The Electrocardiogram -- 4.2.4 Chest X-Rays -- 4.2.5 Echocardiography -- 4.2.6 Cardiac Catheterization -- 4.2.7 Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) Imaging -- 4.2.8 Electrophysiology -- Part II: Development of the Heart and Its Vessels -- 5: Cardiac Progenitor Cells of the First and Second Heart Fields -- 5.1 Introduction and Historical Perspective -- 5.2 The First Heart Field -- 5.3 The Second Heart Field -- 5.3.1 Regulation of Proliferation and Differentiation -- 5.3.2 Patterning the SHF -- 5.4 Non-Myocardial Derivatives of the First and Second Lineages: Endocardium, Epicardium, and Vascular Endothelial and Smooth ... -- 5.5 Insights into Heart Fields from Single-Cell Transcriptomics -- 5.6 Cardiopharyngeal Mesoderm -- 5.7 Conclusions -- References -- 6: Neural Crest -- 6.1 Introduction -- 6.2 An Overview of CNCC Derivatives -- 6.3 Signaling Pathways Regulating Early CNCC Migration -- 6.4 CNCCs and Pharyngeal Arch Artery Remodeling -- 6.5 CNCCs and Septation of the Cardiac Outflow Tract and Valvulogenesis. ; 6.6 The Role of Interaction Between CNCCs and the Secondary Heart Field -- 6.7 CNCCs in Cardiac Innervation and Conduction -- 6.8 The Potential Role of CNCCs in Cardiac Regeneration -- 6.9 Cardiac and Extracardiac Congenital Defects Due to Defective CNCC Development -- 6.9.1 Failure of Outflow Septation: Persistent Truncus Arteriosus -- 6.9.2 DiGeorge Syndrome (22q11.2 Deletion Syndrome) -- 6.9.3 CHARGE Syndrome -- 6.9.4 LEOPARD and Noonan Syndromes -- 6.9.5 Treacher Collins Syndrome (TCS) -- 6.9.6 Jacobsen Syndrome -- 6.10 Conclusions -- References -- 7: Inflow Tract Development -- 7.1 Introduction -- 7.2 The Venous Pole -- 7.3 Development of the Venous Pole -- 7.3.1 The Sinus Venosus -- 7.3.2 The Pulmonary Vein -- 7.3.3 The Atrioventricular Cushions -- 7.3.4 The Dorsal Mesenchymal Protrusion -- 7.3.5 The Mesenchymal Cap of the Primary Atrial Septum -- 7.4 The Role of the AV Mesenchymal Complex in the Formation of the Atrial Septum and the Pathogenesis of Atrial Septal Defects -- References -- 8: Epicardium and Coronary Vessels -- 8.1 Introduction -- 8.2 The Embryonic Epicardium and Forming Coronary Vessels Constitute a Developmental Unit -- 8.2.1 Tissue Interaction During Embryonic Development -- 8.2.2 Formation of the Epicardial Epithelium from Proepicardial Progenitor Cells -- 8.2.3 Epicardial EMT -- 8.2.4 Epicardium-Myocardium Molecular Cross Talk -- 8.3 Diversity of Coronary Cell Lineages -- 8.3.1 The Developmental Potential of Epicardial Cells -- 8.3.2 Hierarchical Differentiation of Coronary Blood Vessel Cell Progenitors -- 8.4 Conclusions -- References -- 9: Establishment of Cardiac Laterality -- 9.1 Introduction -- 9.2 Cardiac Asymmetry and Oxygenation of Blood -- 9.3 Complex Congenital Heart Disease and Heterotaxy -- 9.4 Modular Assembly of Cardiac Asymmetry -- 9.5 Left-Right Patterning. ; 9.6 Heart Looping and Development of Cardiac Asymmetry -- 9.7 Developmental Signaling in the Specification of Cardiac Asymmetry -- 9.8 Intrinsic Chirality and the Regulation of Heart Looping -- 9.9 Impact of Cardiac Mechanics -- 9.10 Cilia, Left-Right Patterning, and Congenital Heart Defects -- 9.11 Complex Genetic Architecture of Human Laterality Defects -- 9.12 Summary -- References -- 10: Development of the Cardiac Conduction System -- 10.1 Introduction -- 10.2 CCS Development -- 10.3 Development of the Sinus Venosus and Sinoatrial Node -- 10.4 Transcriptional Regulatory Network of the Sinoatrial Node -- 10.5 Development of the Atrioventricular Canal -- 10.6 Gene Regulatory Mechanisms for AVC Development and Function -- 10.7 Development of the Ventricular Conduction System -- 10.8 Transcriptional Regulatory Network of the Ventricular Conduction System -- 10.9 Conclusion -- References -- 11: Hemodynamics During Development and Postnatal Life -- 11.1 Introduction -- 11.2 Studies in Developing Zebrafish -- 11.3 Avian Embryonic Heart Hemodynamics -- 11.4 Studies in Rodent Embryos -- 11.5 Large Animal Models -- 11.6 Human Fetal Hemodynamics -- 11.7 Postnatal Hemodynamics -- 11.8 Conclusions -- References -- 12: Evolutionary Aspects of Chamber Formation and Septation -- 12.1 Introduction -- 12.2 An Evolutionarily Conserved Building Plan of the Developing Heart -- 12.3 Origins of Chamber Septation -- 12.4 Atrial Septation -- 12.5 Evolution of Ventricular Septation and Atrioventricular Remodeling -- 12.6 Congenital Malformations to the Atrioventricular Junction That Resemble Embryonic and Evolutionary Primitive States -- 12.7 Evolutionary Perspectives on the Atrioventricular Insulating Plane -- 12.8 Conclusion -- References -- 13: Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells -- 13.1 Introduction. ; 13.2 Recapitulation of Heart Development by Stepwise Differentiation of iPSCs.
• Titolo autorizzato: Congenital Heart Diseases
• ISBN: 9783031440878; 9783031440861
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910865241003321
• Lo trovi qui: Univ. Federico II
• Serie: Advances in Experimental Medicine and Biology Series