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 Pads 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 Dolls House Toys that in patients with cEDS, vascular fragility may be a complication.