By Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys
Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, examine, and care linked to AOS. With the sector of genetically prompted aortopathies starting to be, this significant reference will bring together the most recent discoveries during this box, permitting cardiologists, cardio-thoracic surgeons, scientific geneticists, vascular surgeons, orthopedic surgeons, and researchers to achieve the information they wish with no need to assemble the knowledge from a variety of sources.
Coverage comprises genotype and phenotype correlations, the useful function of SMAD3, and insights into the function of TGFbeta signaling in aortic disorder. The e-book increases wisdom approximately AOS, delivering know-how and higher sufferer deal with this competitive disease.
- Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to sufferer care
- Contains scientific administration assistance on optimum cardiovascular remedies and surgery
- Explains the autosomal dominant syndromes brought on by mutations within the SMAD3 gene
- Identifies the most important gains of this syndrome, together with arterial aneurysms and tortuosity, early onset arthritis, and delicate craniofacial features
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Extra info for Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. Am J Med Genet 2002;109(4):261–70.  Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 1995;56(6):1287–96.  Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, de Paepe A, et al. Gene panel sequencing in heritable thoracic aortic disorders and related entities—results of comprehensive testing in a cohort of 264 patients.
The thoracoabdominal aorta in Marfan syndrome. London: Springer London; 2014. p. 423–434.  Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE, et al. 2010 ACCF/ AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
1 Summary of the Revised Ghent Nosology (Upper Panel) and Systemic Score (Lower Panel) In the absence of a family history, the diagnosis of MFS is confirmed when either Ao (Z ≥ 2) + EL Ao (Z ≥ 2) + FBN1 Ao (Z ≥ 2) + Syst (≥7pts) EL + FBN1 with known Ao In the presence of a family history, the diagnosis of MFS is confirmed when either EL + FH of MFS Syst (≥7 pts) + FH of MFS Ao (Z ≥ 2 in adults, Z ≥ 3 in children) + FH of MFS Systemic score Pectus carinatum deformity—Pectus excavatum or chest asymmetry 2−1 Wrist AND thumb sign—wrist OR thumb sign 3−1 Hindfoot deformity—Plain pes planus 2−1 Protrusio acetabuli 2 Pneumothorax 2 Dural ectasia 2 Reduced US/LS AND increased arm/height AND no severe scoliosis 1 Scoliosis or thoracolumbar kyphosis 1 Reduced elbow extension 1 Facial features (3/5) 1 Skin striae 1 Myopia > 3 diopters 1 Mitral valve prolapse (all types) 1 Total 20 points Ao (Z ≥ 2), Aortic root Z-score at the level of the sinuses of Valsalva exceeding 2 standard deviations above the mean; EL, ectopia lentis; Syst, systemic score; FBN1, documented mutation in the FBN1 gene; FH, family history.
Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations by Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys