Aneurysms-Osteoarthritis Syndrome
SMAD3 Gene Mutations

An overview on the Aneurysms-Osteoarthritis Syndrome caused by SMAD3 mutations that is a first-of-its-kind compilation of discovery, research, and care

Denise van der Linde (Author), Jolien Roos-Hesselink (Author), Bart L. Loeys (Author)

9780128027080

Paperback, published 24 November 2016

178 pages
22.9 x 15.1 x 1.3 cm, 0.29 kg

Approx.164 pages

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)

Subject Areas: Genetics [non-medical PSAK], Orthopaedics & fractures [MNS]