Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
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.
Department of Cardiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Claire A
CA
Martin
Virginia E
VE
Clowes
John P
JP
Cooper
D003937:Diagnosis, Differential; D004452:Echocardiography; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D014057:Tomography, X-Ray Computed
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human