Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome

Lídia Caley; Ana Campar; Teresa Mendonça; Fátima Farinha

doi:10.128f90/2023_003698

Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome

Eur J Case Rep Intern Med. 2023 Jan 24;10(2):003698. doi: 10.128f90/2023_003698. eCollection 2023.

Authors

Lídia Caley¹, Ana Campar^{2

3}, Teresa Mendonça², Fátima Farinha^{2

3}

Affiliations

¹ Internal Medicine Department, Centro Hospitalar Médio Tejo, Abrantes, Portugal.
² Internal Medicine Department, Centro Hospitalar Universitário do Porto, Portugal.
³ Clinical Immunology Unit, Centro Hospitalar Universitário do Porto, Portugal.

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.

Learning points: Classical Ehlers-Danlos is a rare autosomal dominant inherited connective disorder.Arterial dissections are rarely found in cEDS patients.Association of cEDS and vascular fragility can result from new type V collagen mutation.

Keywords: COL5A1 mutation; Classical Ehlers-Danlos syndrome; aortic dissection.