Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways
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2016
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| 245 | 1 | 0 | |a Congenital heart diseases: The broken heart |b clinical features, human genetics and molecular pathways |c Silke Rickert-Sperling, Robert G. Kelly, David J. Driscoll, editors |
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| adam_text | Silke Rickert-Sperling · Robert 6. Kelly ♦ David i Driscoll Editors
Clinical Features, Human Genetics and Molecular Pathways
This book provides comprehensive insights into congenital heart disease from
embryonic development through to clinical features, including human genetics and
our current knowledge of the underlying molecular pathways, it is divided into three
parts: an introduction to the development of the heart and its vessels, an overview of the
molecular pathways affecting the development of various cardiovascular structures, and
a main section focusing on the different types of structural and nonstructural congenital
heart diseases, including their clinical features, underlying genetic alterations and
related animal models and pathways. Taken together these chapters, which were written
by and for clinicians and researchers, provide an integrated and cutting-edge resource
for all those who want to learn more about both the clinical aspects and the genetic
and molecular basis of congenital heart disease.
Contents
Part I Introduction
1 Cardiac Development and Animal Models of Congenital
Heart Defects................................................ 3
Robert G. Kelly
2 Normal Cardiac Anatomy and Clinical Evaluation................ 11
David J. Driscoll
Part II Development of the Heart and Its Vessels
3 First and Second Heart Field.................................... 25
Margaret Buckingham
4 Neural Crest.................................................... 41
Bijoy Thattaliyath and Mary Hutson
5 Inflow Tract Development........................................ 55
Andy Wessels
6 Epicardium and Coronary Arteries................................ 63
José C. Martin-Robles and José M. Pérez-Pomares
7 Establishment of Cardiac Laterality............................. 71
George C. Gabriel and Cecilia W. Lo
8 Cardiac Conduction System..................................... 83
Rajiv Mohan and Vincent M. Christoffels
9 Hemodynamics During Development and Postnatal Life.............. 97
David Sedmera
10 Evolutionary Aspects of Cardiac Development.................... 109
Bjarke Jensen and Antoon F.M. Moorman
Part III Central Molecular Pathways
11 Inter- and Intracellular Signaling Pathways.................... 121
Jörg Heineke
X!
Contents
xii
12 Cardiac Transcription Factors and Regulatory Networks............. 139
Marcel Grunert, Cornelia Dorn, and Silke Rickert-Sperling
13 Post-transcriptional Regulation by Proteins and
Non-coding RNAs.................................................. 153
Amelia E. Aranega and Diego Franco
14 Post-translational Modification................................... 173
Jun Wang and Robert J. Schwartz
15 Epigenetics....................................................... 203
Rajan Jain, Mudit Gupta, and Jonathan A, Epstein
16 Environmental Signals............................................. 223
George A. Porter Jr.
17 The Contractile Apparatus of the Heart............................ 237
Ingo Morano
18 Technologies to Study Genetics and Molecular Pathways............. 251
Cornelia Dorn, Marcel Grunert, Ana Dopazo,
Fátima Sánchez-Cabo, Alberto Gatto, Jesús Vázquez,
Silke Rickert-Sperling, and Enrique Lara-Pezzi
Part IV Atrial Septal Defect
19 Clinical Presentation and Therapy of Atrial Septal Defect.......... 273
David J. Driscoll
20 Human Genetics of Atrial Septal Defect............................. 279
Rabia Khan and Patrick Y. Jay
21 Molecular Pathways and Animal Models of Atrial Septal Defect ... 291
Patrick Y. Jay, Karl R. Degenhardt, and Robert H. Anderson
Part V Ventricular Septal Defect
22 Clinical Presentation and Therapy of Ventricular Septal Defect--- 303
David J. Driscoll
23 Human Genetics of Ventricular Septal Defect........................ 307
Katherina Bellmann, Andreas Perrot, and Silke Rickert-Sperling
24 Molecular Pathways and Animal Models of Ventricular
Septal Defect...................................................... 329
Lucile Houyel
Part VI Atrioventricular Septal Defect
25 Clinical Presentation and Therapy of Atrioventricular
Septal Defect..................................................... 345
David J. Driscoll
Contents
xiii
26 Human Genetics of Atrioventricular Septal Defect.................. 349
Cheryl L. Maslen
27 Molecular Pathways and Animal Models of Atrioventricular
Septal Defect................................................... 357
Andy Wessels
Part VII Total Anomalous Pulmonary Venous Return
28 Clinical Presentation and Therapy of Total Anomalous
Pulmonary Venous Return........................................... 369
David J. Driscoll
29 Human Genetics of Total Anomalous Pulmonary Venous Return... 373
Robert E. Poelmann, Monique R.M. Jongbloed, Marco C. DeRuiter,
and Adriana C. Gittenberger-de Groot
30 Molecular Pathways and Animal Models of Total Anomalous
Pulmonary Venous Return........................................... 379
Robert E. Poelmann, Adriana C. Gittenberger-de Groot,
Monique R.M. Jongbloed, and Marco C. DeRuiter
Part VIII Tetralogy of Fallot and Double Outlet Right Ventricle
31 Clinical Presentation and Therapy of Tetralogy of
Fallot and Double Outlet Right Ventricle.......................... 397
David J. Driscoll
32 Human Genetics of Tetralogy of Fallot and Double
Outlet Right Ventricle............................................ 403
Cornelia Dorn, Andreas Perrot, and Silke Rickert-Sperling
33 Molecular Pathways and Animal Models of Tetralogy of Fallot and
Double Outlet Right Ventricle..................................... 417
Robert G. Kelly
Part IX d-Transposition of the Great Arteries
34 Clinical Presentation and Therapy of d-Transposition
of the Great Arteries............................................. 433
David J. Driscoll
35 Human Genetics of d-Transposition of the Great Arteries......... 439
Patrice Bouvagnet and Anne Moreau de Bellaing
36 Molecular Pathways and Animal Models of d-Transposition
of the Great Arteries............................................. 449
Amy-Leigh Johnson and Simon D. Bamforth
XIV
Contents
Part X Defects of Situs
37 Clinical Presentation and Therapy of Defects of Situs.......... 461
David J. Driscoll
38 Human Genetics of Defects of Situs............................. 463
Andreas Perrot and Silke Rickert-Sperling
39 Molecular Pathways and Animal Models of Defects of Situs....... 473
Nikolai T. Klena, George C. Gabriel, and Cecilia W. Lo
Part XI Semilunar Valve and Aortic Arch Anomalies
40 Clinical Presentation and Therapy of Semilunar Valve and
Aortic Arch Anomalies......................................... 491
David J. Driscoll
41 Human Genetics of Semilunar Valve and Aortic Arch Anomalies. . . 501
Matina Prapa and Siew Yen Ho
42 Molecular Pathways and Animal Models of Semilunar Valve
and Aortic Arch Anomalies..................................... 513
Amy-Leigh Johnson and Simon D. Bamforth
Part XII Coronary Artery Anomalies
43 Clinical Presentation and Therapy of Coronary
Artery Anomalies............................................... 529
David J. Driscoll
44 Human Genetics of Coronary Artery Anomalies..................... 535
Beatriz Picazo and José M. Pérez-Pomares
45 Molecular Pathways and Animal Models of Coronary
Artery Anomalies............................................... 541
Juan A. Guadix and José M. Pérez-Pomares
Part XIII Truncus Arteriosus
46 Clinical Presentation and Therapy of Truncus Arteriosus......... 555
David J. Driscoll
47 Human Genetics of Truncus Arteriosus............................ 559
Hiroyuki Yamagishi
48 Molecular Pathways and Animal Models of Truncus Arteriosus. . . . 569
Amy-Leigh Johnson and Simon D. Bamforth
Contents
XV
Part XIV TVicuspid Atresia and Univentricular Heart
49 Clinical Presentation and Therapy of Tricuspid Atresia
and Univentricular Heart....................................... 579
David J. Driscoll
50 Human Genetics of Tricuspid Atresia and Univentricular Heart . . . 583
Abdul-Karim Sleiman, Liane Sadder, and George Nemer
51 Molecular Pathways and Animal Models of TVicuspid Atresia
and Univentricular Heart....................................... 591
Kamel Shibbani and George Nemer
Part XV Ebstein Anomaly
52 Clinical Presentation and Therapy of Ebstein Anomaly........... 609
David J. Driscoll
53 Human Genetics of Ebstein Anomaly............................... 613
Gregor U. Andelfinger
54 Molecular Pathways and Animal Models of Ebstein Anomaly........ 621
Gregor U. Andelfinger
Part XVI Hypoplastic Left Heart Syndrome
55 Clinical Presentation and Therapy of Hypoplastic
Left Heart Syndrome............................................ 637
David J. Driscoll
56 Human Genetics of Hypoplastic Left Heart Syndrome............... 641
Woodrow D. Benson
57 Molecular Pathways and Animal Models of Hypoplastic
Left Heart Syndrome............................................ 649
Florian Wiinnemann and Gregor U. Andelfinger
Part XVII Cardiomyopathies
58 Clinical Presentation and Therapy of Cardiomyopathies........... 667
David J. Driscoll
59 Human Genetics of Cardiomyopathies.............................. 675
Alexa M.C. Vermeer, Arthur A.M. Wilde, and Imke Christiaans
60 Molecular Pathways and Animal Models of Cardiomyopathies .... 687
Enkhsaikhan Purevjav
XVI
Contents
Part XVIII Arrhythmias
61 Clinical Presentation and Therapy of Arrhythmias................ 715
David J. Driscoll
62 Human Genetics of Arrhythmias................................... 721
Erik Schulze-Bahr and Sven Dittmann
63 Molecular Pathways and Animal Models of Arrhythmias............. 737
Sara Adelman, Amy C. Sturm, and Peter J. Mohler
Perspective......................................................... 747
Deepak Srivastava
Index............................................................... 751
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| id | DE-604.BV043380854 |
| illustrated | Illustrated |
| indexdate | 2024-12-24T04:53:04Z |
| institution | BVB |
| institution_GND | (DE-588)5282312-X |
| isbn | 3709118824 9783709118825 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-028799539 |
| oclc_num | 956535815 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | xxx, 765 Seiten Illustrationen 235 mm x 155 mm, 0 g |
| publishDate | 2016 |
| publishDateSearch | 2016 |
| publishDateSort | 2016 |
| publisher | Springer |
| record_format | marc |
| spellingShingle | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways Humangenetik (DE-588)4072653-8 gnd Herzkrankheit (DE-588)4024663-2 gnd Molekulare Medizin (DE-588)4543844-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Herzfehler (DE-588)4024646-2 gnd |
| subject_GND | (DE-588)4072653-8 (DE-588)4024663-2 (DE-588)4543844-4 (DE-588)4331107-6 (DE-588)4024646-2 |
| title | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways |
| title_auth | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways |
| title_exact_search | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways |
| title_full | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways Silke Rickert-Sperling, Robert G. Kelly, David J. Driscoll, editors |
| title_fullStr | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways Silke Rickert-Sperling, Robert G. Kelly, David J. Driscoll, editors |
| title_full_unstemmed | Congenital heart diseases: The broken heart clinical features, human genetics and molecular pathways Silke Rickert-Sperling, Robert G. Kelly, David J. Driscoll, editors |
| title_short | Congenital heart diseases: The broken heart |
| title_sort | congenital heart diseases the broken heart clinical features human genetics and molecular pathways |
| title_sub | clinical features, human genetics and molecular pathways |
| topic | Humangenetik (DE-588)4072653-8 gnd Herzkrankheit (DE-588)4024663-2 gnd Molekulare Medizin (DE-588)4543844-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Herzfehler (DE-588)4024646-2 gnd |
| topic_facet | Humangenetik Herzkrankheit Molekulare Medizin Angeborene Krankheit Herzfehler |
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