bicuspid aortic valve and thoracic aortic aneurysm three patient populations, two disease phenotypes, and one shared genotype二叶主动脉瓣、胸主动脉瘤三个患者群体,两个疾病表型,和一个共同的基因型.pdfVIP

Hindawi Publishing Corporation Cardiology Research and Practice Volume 2012, Article ID 926975, 11 pages doi:10.1155/2012/926975 Review Article Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype Robert B. Hinton Division of Cardiology, The Heart Institute, Cincinnati Children’s Hospital Medical Center, 240 Albert Sabin Way, Cincinnati, OH 45219, USA Correspondence should be addressed to Robert B. Hinton, robert.hinton@ Received 1 March 2012; Accepted 5 July 2012 Academic Editor: Martin Misfeld Copyright © 2012 Robert B. Hinton. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Bicuspid aortic valve (BAV) and thoracic aortic aneurysm (TAA) are two discrete cardiovascular phenotypes characterized by latent progressive disease states. There is a clear association between BAV and TAA; however the nature and extent of this relationship is unclear. There are both distinct and overlapping developmental pathways that have been established to contribute to the formation of the aortic valve and the aortic root, and the mature anatomy of these different tissue types is intimately intertwined. Likewise, human genetics studies have established apparently separate and common contributions to these clinical phenotypes, suggesting complex inheritance and a shared genetic basis and translating 3 patient populations, namely, BAV, TAA, or both, into a common but diverse etiology. A better understanding of the BAV-TAA association will provide an opportunity to leverage molecular information to modify clinical care through more sophistica