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Cardioskeletal Myopathies in Children and Young Adults
- 1st Edition - October 22, 2016
- Editors: John Lynn Jefferies, Burns Blaxall, Jeffrey A. Towbin, Jeffrey Robbins
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 0 0 0 4 0 - 3
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 0 0 5 8 0 - 4
Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Fa… Read more
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Request a sales quoteCardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011).
Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health.
- Reveals the link between cardiac muscle disease and skeletal muscle disease
- Explains how genetics and environmental factors effect muscle function of diverse origins
- Designates current and novel therapeutic strategies that target both cardiac and skeletal muscle systems
Researchers and Clinicians with an interest in the mechanism of disease, diagnosis, management, and future direction of heart and skeletal muscle disease in children and young adults
- Dedication
- List of Contributors
- Cardioskeletal Myopathies: Foreword
- Section I. Physiology and Molecular Basis of Muscle
- Chapter 1. Ventricular Systolic Function
- Introduction
- Heart Rate and the Bowditch Effect
- Summary
- Chapter 2. Basics of Skeletal Muscle Function and Normal Physiology
- Introduction
- Development of Skeletal Muscle
- Muscle Growth
- Skeletal Muscle Architecture, Contractile Apparatus, and Fiber Types
- The Basement Membrane and Muscle Fiber Plasma Membrane
- The Neuromuscular and Myotendinous Junctions
- Chapter 3. Molecular Pathways in Cardiomyopathies
- Cardiac Muscle Development
- Skeletal Muscle Development
- Neurohormonal Regulation in the Heart: β-Adrenergic Receptors and the Renin-Angiotensin-Aldosterone System
- Sarcomere and Cytoskeleton Organization in Cardiac Muscle
- Metabolism/Metabolic Pathways in Cardiac Development
- Autophagy in the Cardiovascular System
- Apoptosis and Necrosis in the Heart
- Epigenetic Regulation of Cardiac Development and Disease
- Chapter 4. Abnormal Muscle Pathology and Physiology
- Introduction
- The Muscular Dystrophies
- Duchenne Muscular Dystrophy
- Congenital Muscular Dystrophy
- Limb-Girdle Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy
- Myotonic Muscular Dystrophy
- Spinal Muscular Atrophy
- Mitochondrial Myopathy
- Friedreich Ataxia
- Animal Models
- Anatomy of Breathing in Muscular Dystrophy
- Inspiratory Muscles in Muscular Dystrophy
- Animal Models and Breathing Differences
- Transgene Therapy
- Cardiorespiratory Disease
- Conclusion
- Chapter 1. Ventricular Systolic Function
- Section II. Diseases of Cardio-Skeletal Phenotypes
- Chapter 5. Dilated Cardiomyopathy and Cardioskeletal Involvement
- Definition
- Epidemiology
- Natural History
- Etiology and Pathophysiology
- Diagnosis
- Management
- Future Directions
- Chapter 6. Hypertrophic Cardiomyopathy
- Introduction
- Diagnosis and Etiology
- Differential Diagnosis
- Natural History and Prognosis
- Management
- Genetic Testing and Family Evaluation
- Conclusions and Future Directions
- Chapter 7. Restrictive Cardiomyopathy Associated With Skeletal Myopathies
- Introduction
- Physiology of Diastole
- Diagnostic Testing for Restrictive Cardiomyopathy
- Pathophysiology of Restrictive Cardiomyopathy
- Restrictive Cardiomyopathy in Patients With Skeletal Myopathy
- Summary
- Chapter 8. Left Ventricular Noncompaction Cardiomyopathy
- Introduction
- Pathology of Left Ventricular Noncompaction
- Incidence of Left Ventricular Noncompaction
- Clinical Features and Diagnosis of Left Ventricular Noncompaction
- Subtypes of Left Ventricular Noncompaction
- Imaging of Left Ventricular Noncompaction
- Electrocardiography in Left Ventricular Noncompaction
- Arrhythmias in Left Ventricular Noncompaction
- Clinical Genetics of Left Ventricular Noncompaction
- Molecular Genetics of Left Ventricular Noncompaction
- Animal Models of LVNC
- Therapy and Outcome
- Conclusions and Summary
- Chapter 9. Diseases of the Cytoskeleton: The Desminopathies
- Introduction
- Microfilaments
- Microtubules
- Desmin
- Desmin Function
- IF-Associated Cardiomyopathies: A Subgroup of Myofibrillar Myopathy
- The Desmin-Related Cardiomyopathies
- Animal Models: A Window into Cardiomyopathic Mechanisms
- Desmin-Associated Proteins: Mechanistic Insights into the Disease
- PAO Can Cause Heart Disease and Failure
- Therapeutic Targets
- Chapter 10. Diseases of Cardiac Sarcomeres
- Introduction
- Sarcomere Function in Cardiac Filling and Ejection
- Cardiac Sarcomeres as a Hub of Cellular Signaling
- Sarcomere Control Mechanisms as Rate Limiting and Major Contributors to Cardiac Dynamics
- Signaling Cascades in Diseases of the Sarcomere
- Phosphorylation as a Modifier of Pathology due to Sarcomere Protein Mutations
- TnI Phosphorylation and HCM
- Redox and Nitrosative Signaling and Cardiac Sarcomeres
- Therapies Preventing or Reversing Progression to Hypertrophy, Cardiac Dysfunction, and Sudden Death
- Summary
- Chapter 11. Diseases of the Intercalated Disc
- Introduction
- The Role of Desmosomal Proteins in Cardioskeletal Myopathies
- Pathology and Disease Mechanisms in Desmosomal Protein-Related Cardiomyopathies
- The Role of Nondesmosomal Proteins in Cardioskeletal Myopathies
- Clinical Diagnosis and Management of Cardioskeletal Myopathies
- Genetic Testing in Cardioskeletal Myopathies
- Chapter 12. Diseases of the Nuclear Membrane
- A Cellular Perspective
- A Clinical Perspective
- An Organismal Perspective
- Chapter 5. Dilated Cardiomyopathy and Cardioskeletal Involvement
- Section III. Metabolic Causes of Disease
- Chapter 13. Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood
- Introduction
- Inheritance
- Normal Cardiac Metabolism
- Cardiomyopathy due to Mitochondrial Dysfunction
- Cardiomyopathy due to mtDNA Mutations
- Cardiomyopathy due to Mutations in Nuclear DNA
- Mitochondrial Fatty Acid Beta Oxidation Defects
- Chapter 14. Nonmitochondrial Metabolic Cardioskeletal Myopathies
- Introduction
- Inborn Errors of Metabolism Associated With Cardiomyopathy and/or Skeletal Muscle Disease Classified by Disorder Group
- Laboratory Studies for Confirmation of IEMs
- Conclusion
- Chapter 13. Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood
- Section IV. Syndromal and Chromosomal Causes of Disease
- Chapter 15. Cardio-Skeletal Muscle Disease Associated With Syndromes
- Introduction
- Cardiac Physiology and Metabolism
- Cardiovascular Disorders of Mitochondrial Function
- Fabry Disease
- Danon Disease
- Adenosine Monophosphate–Activated Protein Kinase Deficiency
- Congenital Disorders of Glycosylation
- Chromosomal Syndromes Associated With Cardiomyopathy
- Trisomy 21 (Down Syndrome)
- 1p36 Deletion Syndrome
- Chromosome 8p23.1 Deletion
- Turner Syndrome
- Other Chromosomal Disorders Associated With Cardiomyopathy
- RASopathies: Disorders of the RAS-MAPK Signaling Pathway
- Noonan Syndrome With Multiple Lentigines
- Neurofibromatosis and NF1
- Coffin–Lowry Syndrome
- Pierre-Robin Sequence
- Sotos Syndrome
- Marfan Syndrome
- Ehlers-Danlos Syndromes
- Septo-Optic Dysplasia
- Alström Syndrome
- Conclusions
- Chapter 16. Cardioskeletal Muscle Disease Associated With Chromosomal Disorders
- Congenital Heart Disease and Chromosomal Disorders
- CHD and the Microdeletion/Microduplication Syndromes
- Conclusion and Future Direction
- Chapter 15. Cardio-Skeletal Muscle Disease Associated With Syndromes
- Section V. Cardio-Skeletal Myopathies Associated With Congenital Heart Disease
- Chapter 17. Cardioskeletal Myopathies in Congenital Heart Diseases
- Introduction
- Exercise Limitation in Acquired Heart Failure
- Peripheral Changes in Acquired Heart Failure
- Systemic Changes in Heart Failure
- Exercise Training in Acquired Heart Failure
- Future Directions
- Conclusions
- Chapter 17. Cardioskeletal Myopathies in Congenital Heart Diseases
- Section VI. Future Directions in the Diagnosis and Management of Cardioskeletal Myopathic Disease in Children and Young Adults
- Chapter 18. Future Diagnostic Strategies—Pediatric
- Introduction
- Noninvasive Imaging
- Electrophysiology: Advances in Fluoroscopic Radiation Reduction
- Emerging Diagnostic Strategies in Cardiac Catheterization
- Monitoring in the Cardiac ICU
- Integration of Recent Genetic Findings Into Pediatric Cardiology Practice
- Conclusions
- Chapter 19. Neuromodulation of the Failing Heart
- Overview of the Cardiac Autonomic Nervous System
- Sympathovagal Imbalance in Heart Failure
- Assessment of Autonomic Nervous System Activity
- Therapeutic Modulation of the Autonomic Nervous System in Heart Failure
- Emerging Therapies for Neuromodulation of the Failing Heart
- Future Directions
- Overview and Conclusion
- Chapter 18. Future Diagnostic Strategies—Pediatric
- Index
- No. of pages: 418
- Language: English
- Edition: 1
- Published: October 22, 2016
- Imprint: Academic Press
- Hardback ISBN: 9780128000403
- eBook ISBN: 9780128005804
JJ
John Lynn Jefferies
Dr. Jefferies is a recognized international expert in the field of heart muscle disease contributing much of the current literature regarding related genetic mechanisms, clinical investigation, and guideline development.
Affiliations and expertise
Cincinnati Children’s Hospital, OH, USABB
Burns Blaxall
Dr. Blaxall is a renowned translational basic scientist who has significantly contributed the current understanding of myocardial signalling pathways and myocyte hypertrophy. Dr. Chin is a senior investigator in the field of pediatric cardiac transplantation who is actively involved with development of novel methods for diagnosing and treating humeral and cellular rejection.
Affiliations and expertise
Cincinnati Children’s Hospital, OH, USAJT
Jeffrey A. Towbin
Dr. Towbin is a recognized international expert in the field of heart muscle disease contributing much of the current literature regarding related genetic mechanisms, clinical investigation, and guideline development.
Affiliations and expertise
Cincinnati Children’s Hospital, OH, USAJR
Jeffrey Robbins
Dr. Robbins is a revered expert in the basic science of cardiomyopathic disease, pioneering animal modelling of genetically based heart muscle disease.
Affiliations and expertise
Cincinnati Children’s Hospital, OH, USARead Cardioskeletal Myopathies in Children and Young Adults on ScienceDirect