Types
Defining Characteristics
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)
Disease Development
Dominant-negative mutations in pro-a1(III) chain of collagen type 3
Risk factors
Autosomal dominant inheritance Family history
Sudden death in close relative
Lab/Imaging
Clinical genetic testing
Conventional Treatment
Celiprolol (cardioprotective)
Complications
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)