Article
Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
BMJ case reports - 4 Feb 2014
Martin Claire A, Clowes Virginia E, Cooper John P
Abstract excerpt
A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of a mutation in the TGFBR1 gene in the patient and his son confirmed the...
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