Ehlers Danlos Syndrome (EDS): Vascular

Arterial, digestive, uterine rupture/fragility, characteristic facial appearance (acrogeria, tightened skin over face, hollow cheeks, thin upper lip and skin), extensive bruising, spontaneous pneumo/hemothorax, hypermobility of small joints, talipes equinovarus (clubfoot)

Dominant-negative mutations in pro-a1(III) chain of collagen type 3

Autosomal dominant inheritance Family history
Sudden death in close relative

Clinical genetic testing

Celiprolol (cardioprotective)

Very severe – dissection of carotid artery, arterial/digestive/ uterine fragility or rupture
80% develop significant med probs by age 40
Sudden death (median age 48)