title: The Value of Aortic Valve and Aortic Arch Imaging in the Identification of Genetic Syndromes.
abstract: Echocardiographers imaging the aortic valve, root, and arch may observe coincidental extracardiac malformations, unusual facial features or body habitus, and/or mental or growth retardation. The pattern of anomalies may indicate a previously unrecognized genetic malformation syndrome. Echocardiographers also encounter genetic syndromes when clinicians specifically refer patients with certain syndromes for prospective detection of cardiac anomalies. Although aortic valve, root, and arch anomalies occur in a large number of syndromes, this article will focus on the most distinctive associations. In addition to discussing structural congenital cardiovascular malformations, aortic root dilation occurring in inherited disorders of connective tissue will be included. (ECHOCARDIOGRAPHY, Volume 13, July 1996)
authors.affiliation: 272 Dover Road, Westwood, MA 02090.
authors.forename: Angela E.
authors.initials: AE
authors.lastname: Lin