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

Aneurysms-Osteoarthritis Syndrome (eBook, ePUB)

SMAD3 Gene Mutations

• Format: ePub

Produktbeschreibung

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

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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 178
• Erscheinungstermin: 3. Oktober 2016
• Englisch
• ISBN-13: 9780128027110
• Artikelnr.: 46759906

Autorenporträt

Dr. Van Der Linde is an experienced researcher with in the field of congenital hearts defect and genetic aortic disease in adults. She has published over 20 articles in international journals and published her work in several international conferences around the world. During her PhD she was involved in the first description of (cardio)vascular consequences of the new Aneurysms-Osteoarthritis Syndrome. After her PhD, she did a post doc research period about genetic aortic disease in Sydney, Australia. She is currently back in Rotterdam, The Netherlands, working as a cardiologist in training.

Inhaltsangabe

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)