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Cardiology · Cardiology / Heritable aortic disease

Vascular Ehlers–Danlos syndrome

also: Ehlers–Danlos syndrome type IV; Sack–Barabas syndrome; vEDS

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Collagen disorder with arterial, bowel and uterine rupture.

Specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected, earlier complications; Female: affected, pregnancy risks; Children: yes, from childhood
Gene(s) involved: COL1A1, COL3A1
Alternative names & eponyms: Ehlers–Danlos syndrome type IV; Sack–Barabas syndrome; vEDS

Etiology & mechanism

COL3A1 variants cause defective type III collagen.

Gene(s) involved (2)

COL1A1 COL3A1

Symptoms & signs (10)

In plain terms, someone with Vascular Ehlers–Danlos syndrome may experience the following — click any to explore related syndromes:

acrogeria aortic dissection arterial rupture bowel perforation characteristic facial features easy bruising pneumothorax thin translucent skin uterine rupture varicose veins

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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Shares symptoms with

Ehlers–Danlos syndrome, vascular type

arterial rupture, easy bruising, thin translucent skin

Marfan syndrome

aortic dissection, pneumothorax

Cushing syndrome

Ehlers–Danlos syndrome, classic and cardiac-valvular types

Ehlers–Danlos syndrome, classical type

Hypermobile Ehlers–Danlos syndrome

Klippel–Trénaunay syndrome

Klippel–Trénaunay syndrome with neurological involvement

Loeys–Dietz syndrome

Lymphedema–distichiasis syndrome

Shares genes with

Ehlers–Danlos syndrome, classical type

Ehlers–Danlos syndrome, vascular type

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