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The Value of Aortic Valve and Aortic Arch Imaging in the Identification of Genetic Syndromes
Author(s) -
LIN ANGELA E.
Publication year - 1996
Publication title -
echocardiography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.404
H-Index - 62
eISSN - 1540-8175
pISSN - 0742-2822
DOI - 10.1111/j.1540-8175.1996.tb00919.x
Subject(s) - aortic arch , medicine , aortic root , cardiology , bicuspid aortic valve , aortic valve , marfan syndrome , aorta
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.