Full Description
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.
Contents
1. Genetics (the discovery, broadened to include aspects as genotype/phenotype correlations, functional role of SMAD3, insights into the role of TGFbeta signaling in aortic disease)2. Cardiovascular phenotype3. Systemic features (skeletal, joints, auto-immune, craniofacial features)4. Differential diagnosis heritable thoracic aortic diseases5a. Marfan5b. Loeys-Dietz5c. Ehlers-Danlos5d. Bicuspid aortic valve5e. Turner Syndrome6. Cardiovascular imaging7. Treatment options7a. Optimal cardiovascular medical treatment (Losartan etc.)7b. Cardiothoracic surgical experience7c. Vascular interventions and surgical experience7d. Orthopedic treatment options7e. Genetic counseling7f. Approach to clinical management (including proposed clinical follow-up chart)
