Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations

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 careContains clinical management guidance on optimal cardiovascular treatments and surgeryExplains the autosomal dominant syndromes caused by mutations in the SMAD3 geneIdentifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

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 phenotype 3. Systemic features (skeletal, joints, auto-immune, craniofacial features) 4. Differential diagnosis heritable thoracic aortic diseases 5a. Marfan 5b. Loeys-Dietz 5c. Ehlers-Danlos 5d. Bicuspid aortic valve 5e. Turner Syndrome 6. Cardiovascular imaging 7. Treatment options 7a. Optimal cardiovascular medical treatment (Losartan etc.) 7b. Cardiothoracic surgical experience 7c. Vascular interventions and surgical experience 7d. Orthopedic treatment options 7e. Genetic counseling 7f. Approach to clinical management (including proposed clinical follow-up chart)