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Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources.

Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease.

  • Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care
  • Contains clinical management guidance on optimal cardiovascular treatments and surgery
  • Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene
  • Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

1. Cover - p. i 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. ii 5. List of Contributors - p. iv 6. Preface - p. xi 7. Chapter 1: Genetics of Aneurysms-Osteoarthritis Syndrome - p. xiii 8. Chapter 2: Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome - p. 10 9. Chapter 3: Systemic Features of Aneurysms-Osteoarthritis Syndrome - p. 20 10. Chapter 4: Differential Diagnosis in Heritable Thoracic Aortic Diseases - p. 26 11. Chapter 4a: Marfan Syndrome - p. 27 12. Chapter 4b: Loeys-Dietz Syndrome - p. 54 13. Chapter 4c: Ehlers-Danlos Syndrome - p. 61 14. Chapter 4d: Bicuspid Aortic Valve - p. 72 15. Chapter 4e: Turner Syndrome - p. 88 16. Chapter 5: Cardiovascular Imaging in Aneurysm-Osteoarthritis Syndrome - p. 101 17. Chapter 6: Treatment Options - p. 114 18. Chapter 6a: Optimal Cardiovascular Medical Treatment - p. 116 19. Chapter 6b: Cardiothoracic Surgical Experience - p. 121 20. Chapter 6c: Vascular Interventions and Surgical Experience - p. 128 21. Chapter 6d: Orthopedic Evaluation and Treatment Options - p. 136 22. Chapter 6e: Genetic Counseling - p. 146 23. Chapter 6f: Approach to Clinical Management - p. 152 24. Index - p. 158

Descripcion
Descripción

Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources.

Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease.

  • Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care
  • Contains clinical management guidance on optimal cardiovascular treatments and surgery
  • Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene
  • Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

1. Cover - p. i 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. ii 5. List of Contributors - p. iv 6. Preface - p. xi 7. Chapter 1: Genetics of Aneurysms-Osteoarthritis Syndrome - p. xiii 8. Chapter 2: Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome - p. 10 9. Chapter 3: Systemic Features of Aneurysms-Osteoarthritis Syndrome - p. 20 10. Chapter 4: Differential Diagnosis in Heritable Thoracic Aortic Diseases - p. 26 11. Chapter 4a: Marfan Syndrome - p. 27 12. Chapter 4b: Loeys-Dietz Syndrome - p. 54 13. Chapter 4c: Ehlers-Danlos Syndrome - p. 61 14. Chapter 4d: Bicuspid Aortic Valve - p. 72 15. Chapter 4e: Turner Syndrome - p. 88 16. Chapter 5: Cardiovascular Imaging in Aneurysm-Osteoarthritis Syndrome - p. 101 17. Chapter 6: Treatment Options - p. 114 18. Chapter 6a: Optimal Cardiovascular Medical Treatment - p. 116 19. Chapter 6b: Cardiothoracic Surgical Experience - p. 121 20. Chapter 6c: Vascular Interventions and Surgical Experience - p. 128 21. Chapter 6d: Orthopedic Evaluation and Treatment Options - p. 136 22. Chapter 6e: Genetic Counseling - p. 146 23. Chapter 6f: Approach to Clinical Management - p. 152 24. Index - p. 158

Indice
Autores
Muestra
Ficha Técnica