View larger version (62K):
|
A 24-year-old man was hospitalized for evaluation of an aortic-root aneurysm. He had a family history of aortic disease. Physical examination revealed proptosis, retrognathia, bifid uvula (Panel A), and pectus excavatum (Panel B). Transthoracic echocardiography showed a 50 mm by 50 mm aortic-root aneurysm (Panel C; RV denotes right ventricle, LV left ventricle, and LA left atrium). The presence of the classic triad of craniofacial abnormalities, aortic aneurysm, and bifid uvula, as well as the family history of aortic disease, strongly suggested a diagnosis of Loeys–Dietz syndrome type 1, which was confirmed by genetic analysis showing a mutation in exon . . . [Full Text of this Article] |
Previous
