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Anmerkung: Front Cover -- Cardioskeletal Myopathies in Children and Young Adults -- Cardioskeletal Myopathies in Children and Young Adults -- Copyright -- Dedication -- Contents -- List of Contributors -- Cardioskeletal Myopathies: Foreword -- I - Physiology and Molecular Basis of Muscle -- 1 - Ventricular Systolic Function -- INTRODUCTION -- Subcellular Determinants: A Brief Review -- Beat-to-Beat Regulation of Systolic Function -- Acute Stretch-The Frank-Starling Effect -- Acute Stress-The Anrep Effect -- HEART RATE AND THE BOWDITCH EFFECT -- Measuring Systolic Function -- Pressure-Volume Relations -- Integrative Measures of Systolic Function -- Impact of Pericardial Loading on Systolic Function -- Ventricular-Arterial Interaction -- Treating Systolic Dysfunction -- SUMMARY -- REFERENCES -- 2 - Basics of Skeletal Muscle Function and Normal Physiology -- INTRODUCTION -- DEVELOPMENT OF SKELETAL MUSCLE -- MUSCLE GROWTH -- SKELETAL MUSCLE ARCHITECTURE, CONTRACTILE APPARATUS, AND FIBER TYPES -- Architecture -- Contractile Apparatus -- Fiber Types -- THE BASEMENT MEMBRANE AND MUSCLE FIBER PLASMA MEMBRANE -- Basement Membrane -- Plasma Membrane -- Muscle Fiber Cytoskeleton -- Innervation and Blood Supply -- Proprioreceptors -- THE NEUROMUSCULAR AND MYOTENDINOUS JUNCTIONS -- The Neuromuscular Junction -- Myotendinous Junction -- Excitation-Contraction Coupling -- Sarcoplasm -- REFERENCES -- 3 - Molecular Pathways in Cardiomyopathies -- CARDIAC MUSCLE DEVELOPMENT -- Transcriptional Control of Cardiac Development -- Chamber Expansion -- Trabeculation -- Other Contributors to Heart Development -- SKELETAL MUSCLE DEVELOPMENT -- Early Embryology -- Transcriptional Control of Skeletal Myogenesis -- NEUROHORMONAL REGULATION IN THE HEART: Β-ADRENERGIC RECEPTORS AND THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM -- The β-Adrenergic Receptor (β-AR) System. , β1-AR and Phospholamban -- β1AR and the Ryanodine Receptor (RyR) -- β1-AR and CaMKII -- β2-AR -- Beta-Blockers and Phosphodiesterase Inhibitor in Pediatric and Adult Dilated Cardiomyopathy -- Renin-Angiotensin-Aldosterone-System -- SARCOMERE AND CYTOSKELETON ORGANIZATION IN CARDIAC MUSCLE -- Sarcomere/Cytoskeleton Organization and Signaling Within Muscle -- METABOLISM/METABOLIC PATHWAYS IN CARDIAC DEVELOPMENT -- Energy Production Pathways -- Glycogen Storage Pathways -- Postnatal Regulation of Metabolism -- Exercise and Muscle Metabolism -- General Changes in Metabolism With Heart Failure -- AUTOPHAGY IN THE CARDIOVASCULAR SYSTEM -- Autophagy Regulation and Signaling Pathways -- Autophagy and Heart Failure -- APOPTOSIS AND NECROSIS IN THE HEART -- Extrinsic Pathway -- Intrinsic Pathway -- Necrosis -- Endoplasmic Reticulum -- Protein Misfolding and Heart Failure -- EPIGENETIC REGULATION OF CARDIAC DEVELOPMENT AND DISEASE -- DNA Methylation -- Histone Modifications -- Noncoding RNAs -- Long Noncoding RNAs -- REFERENCES -- 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 -- REFERENCES -- II - Diseases of Cardio-Skeletal Phenotypes -- 5 - Dilated Cardiomyopathy and Cardioskeletal Involvement -- DEFINITION -- EPIDEMIOLOGY -- NATURAL HISTORY -- ETIOLOGY AND PATHOPHYSIOLOGY -- Heritable Causes -- Familial -- Genetic Etiologies -- Sarcomere Dysfunction. , Nonsarcomeric Defects -- Neuromuscular Disorders Associated with DCM -- Muscular Dystrophies -- Myotonic Dystrophy -- Motor and Sensory Neuropathies -- Metabolic and Mitochondrial Myopathies -- Barth Syndrome -- Acquired Cardioskeletal Myopathies -- Anthracycline Exposure -- Alcohol and Drug Abuse -- Ischemic Heart Disease -- Dietary Deficiencies and Anemia -- Thiamine Deficiency -- Selenium Deficiency -- Carnitine Deficiency -- Anemia -- Endocrine Disturbances -- Diabetes Mellitus -- Hypothyroidism and Hyperthyroidism -- Vitamin D -- Inflammatory and Autoimmune Conditions -- Systemic Lupus Erythematosus -- Idiopathic Inflammatory Myopathies -- DIAGNOSIS -- Laboratory Testing -- Imaging Studies -- Echocardiography -- Radionuclide Techniques -- Magnetic Resonance Imaging -- Electrophysiology Studies -- Ambulatory Electrocardiographic (Holter) Monitoring -- Signal Average ECG -- Advanced Studies -- Endomyocardial and Skeletal Muscle Biopsy -- MANAGEMENT -- Acquired Cardiomyopathy Management -- Medications -- β-Blockers -- ACE Inhibitors -- Angiotensin Receptor Blockers -- Aldosterone Antagonists -- Digoxin -- Hydralazine and Nitrates -- Calcium Channel Blockers -- Antiarrhythmic Therapy -- Anticoagulants -- Advanced Therapies -- Cardiac Resynchronization Therapy -- Mechanical Circulatory Support -- FUTURE DIRECTIONS -- ACKNOWLEDGMENT -- REFERENCES -- 6 - Hypertrophic Cardiomyopathy -- INTRODUCTION -- DIAGNOSIS AND ETIOLOGY -- Presentation and Symptoms -- Heart Failure Symptoms -- Chest Pain -- Syncope -- Palpitations -- Symptoms in Infants and Children -- Diagnosis -- Etiology -- Sarcomeric Hypertrophic Cardiomyopathy -- Morphology -- Features on Cardiac Imaging -- Echocardiography -- Electrocardiogram -- Cardiac Magnetic Resonance Imaging -- Pathophysiology -- Left Ventricular Outflow Obstruction -- Diastolic Dysfunction -- Mitral Regurgitation. , Left Atrial Enlargement and Atrial Fibrillation -- Ventricular Arrhythmias and Sudden Cardiac Death -- DIFFERENTIAL DIAGNOSIS -- Malformation Syndromes -- Metabolic Storage Disorders -- PRKAG2 Cardiac Syndrome -- Danon Disease -- Pompe Disease -- Anderson-Fabry Disease -- Neurodegenerative Disorders -- Friedreich's Ataxia -- Mitochondrial Disorders -- Endocrine Disorders -- Diabetes -- Athlete's Heart -- NATURAL HISTORY AND PROGNOSIS -- Sudden Cardiac Death -- Heart Failure -- Prognosis in Children -- MANAGEMENT (FIG. 6.7) -- Treatment of Symptoms -- Symptomatic Treatment for Patients Without Left Ventricular Outflow Obstruction -- Symptomatic Treatment for Patients With Left Ventricular Outflow Obstruction -- Treatment of End-Stage Hypertrophic Cardiomyopathy -- Cardiac Transplant -- Assessing the Risk of Sudden Cardiac Death -- Implantation of ICD in High-Risk Patients -- Recommendations on Exercise Restrictions -- GENETIC TESTING AND FAMILY EVALUATION -- Genetic Testing -- Family Evaluation (Fig. 6.10) -- Preclinical Hypertrophic Cardiomyopathy -- CONCLUSIONS AND FUTURE DIRECTIONS -- REFERENCES -- 7 - Restrictive Cardiomyopathy Associated With Skeletal Myopathies -- INTRODUCTION -- Terminology -- Clinical Diagnosis and Course -- PHYSIOLOGY OF DIASTOLE -- Myocardial and Ventricular Relaxation -- Myocardial and Ventricular Compliance -- Ventricular Filling Dynamics -- Abnormal Diastolic Function -- DIAGNOSTIC TESTING FOR RESTRICTIVE CARDIOMYOPATHY -- Diastolic Filling Indices -- Tissue-Doppler Diastolic Indices -- Tissue Doppler and Speckle Tracking Strain and Strain Rate -- Cardiac Magnetic Resonance Imaging and Cardiac Computed Tomography -- Cardiac Catheterization -- PATHOPHYSIOLOGY OF RESTRICTIVE CARDIOMYOPATHY -- RESTRICTIVE CARDIOMYOPATHY IN PATIENTS WITH SKELETAL MYOPATHY -- Primary Amyloidosis -- Desmin Myopathy -- Myofibrillar Myopathy. , Multicore Myopathy -- Laminopathies, Including Emery-Dreifuss Muscular Dystrophy -- Distal Myopathy With Rimmed Vacuoles -- Mitochondrial Disorders -- Nonspecific Myopathy -- SUMMARY -- REFERENCES -- 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 -- FKBP12 Null Mutation -- MIB1 Mutant -- Bmp10 Mutant -- Tbx20 Mutant -- Numb/Numb-like Mutant -- Nkx2-5 Mutant -- Smad7 Mutant -- NF-ATc Mutant -- Jarid2/Jumonji Mutants -- Tafazzin (TAZ) Mutant -- THERAPY AND OUTCOME -- CONCLUSIONS AND SUMMARY -- REFERENCES -- 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 -- REFERENCES -- 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.

Weitere Ausg.: ISBN 9780128000403

Weitere Ausg.: ISBN 0128000406

Weitere Ausg.: ISBN 9780128005804

Weitere Ausg.: ISBN 0128005807

Sprache: Englisch