Successful endovascular repair of acute type B aortic dissection in undiagnosed Ehlers-Danlos syndrome type IV.
A 61-year-old man presented with an acute type B aortic dissection for which a stent-graft was introduced. He remains complication-free 4 years onwards and has since been diagnosed with Ehlers-Danlos syndrome type IV (EDS IV). His particular mutation is predicted to result in lesser levels of normal collagen and may explain his favourable outcome from endovascular intervention. Understanding the genotype-phenotype correlation may influence the choice of therapy offered to patients with EDS IV.
Khalique
Z
Z
Department of Vascular Surgery, Guy's & St Thomas' NHS Foundation Trust, London, UK.
Lyons
O T A
OT
Clough
R E
RE
Bell
R E
RE
Reidy
J F
JF
Schwarze
U
U
Byers
P H
PH
Taylor
P R
PR
D000208:Acute Disease; D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery*; D001027:Aortography / Q000379:methods; D001807:Blood Vessel Prosthesis; D019917:Blood Vessel Prosthesis Implantation / Q000295:instrumentation; D024061:Collagen Type III / Q000235:genetics; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015607:Stents; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
C439971:COL3A1 protein, human; D024061:Collagen Type III