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
potential causes
epidemiology
risk factors
Autosomal dominant inheritance Family history
Sudden death in close relative
labimaging
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)
