Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome
  • Lídia Caley
    Internal Medicine Department, Centro Hospitalar Médio Tejo, Abrantes, Portugal
  • Ana Campar
    nternal Medicine Department, Centro Hospitalar Universitário do Porto, Portugal; Clinical Immunology Unit, Centro Hospitalar Universitário do Porto, Portugal
  • Teresa Mendonça
    Internal Medicine Department, Centro Hospitalar Universitário do Porto, Portugal
  • Fátima Farinha
    Internal Medicine Department, Centro Hospitalar Universitário do Porto, Portugal; Clinical Immunology Unit, Centro Hospitalar Universitário do Porto, Portugal

Keywords

Classical Ehlers-Danlos syndrome, COL5A1 mutation, aortic dissection

Abstract

Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. The occurrence of aortic dissection has been described in some subtypes of Ehlers-Danlos, but it has a rare association with the cEDS subtype. This case report discusses a 39-year-old female with a past medical history of transposition of great arteries with a Senning repair at the age of 18 months and controlled hypertension with medication, who presents a spontaneous distal aortic dissection. The diagnosis of cEDS was made using the major criteria, and a novel frameshift mutation in COL5A1 was discovered. The reported case emphasises that in patients with cEDS, vascular fragility may be a complication.

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References

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    Published: 2023-02-28
    Issue: 2023: Vol 10 No 2 (view)


    How to cite:
    1.
    Caley L, Campar A, Mendonça T, Farinha F. Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome . EJCRIM 2023;10 doi:10.12890/2023_003698.