Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

• DOI: 10.12945/j.aorta.2013.13-024
• Publication Date: 2013-09-18T20:53:48Z
• Authors: Julie De Backer; Marjolijn Renard; Laurence Campens; Katrien François; Bert Callewaert; Paul Coucke; Anne De Paepe
• Keywords: Clinical Practice; Thoracic aortic aneurysm; Identification; Translational Research; Fibrillin

Since the identification of fibrillin-1 gene as causal for Marfan syndrome, our knowledge molecular genetics and applicability genetic testing in clinical practice have expanded dramatically. Several new syndromes related to thoracic aortic aneurysms dissections (TAAD) been described list underlying genes syndromal nonsyndromal TAAD already includes more than 10 different is rapidly expanding. Based on this knowledge, insights into pathophysiology improved significantly, opportunities targeted treatment emerged. Clinicians involved care patients require a basic disease entities need be informed their families. Gene-tailored management indeed no science fiction anymore should now considered part good practice. We provide systematic overview practical recommendations patient management.