Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

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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 Condiment Pump Dispensers 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 Pump Adaptor 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.