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CASE REPORT
Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
  1. Claire A Martin1,
  2. Virginia E Clowes2,
  3. John P Cooper3
  1. 1Department of Cardiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  2. 2North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK
  3. 3Department of Cardiology, Bedford Hospital NHS Trust, Bedford, UK
  1. Correspondence to Dr John P Cooper, jpcooper{at}doctors.org.uk

Summary

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.

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