RT Journal Article
SR Electronic
T1 Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr2013203063
DO 10.1136/bcr-2013-203063
VO 2014
A1 Claire A Martin
A1 Virginia E Clowes
A1 John P Cooper
YR 2014
UL http://casereports.bmj.com/content/2014/bcr-2013-203063.abstract
AB 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 diagnosis. This article highlights the high prevalence of inherited conditions in dilated aortic root presentations and the importance of family screening and surveillance to allow early surgical intervention.