Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero

Idiopathic arterial calcification of infancy (IACI) is a rare condition cha racterized by extensive arterial calcification and stenoses of large and me dium-sized arteries. Its complications include severe cardiac failure diagn osed in utero as hydrops fetalis or postnatally as respiratory failure comb ined with cardiomegaly. Two newborn male siblings with IACI are described. In utero, echocardiography revealed poor ventricular function and hyperecho genic foci in arterial walls. Both had fatal outcome during the newborn per iod. At autopsy, medial calcifications in the walls of great arteries, in c oronary arteries, in glomeruli, and in subendocardium were detected. In add ition, an inflammatory process in the shoulder joint was determined to be l arge periarticular tissue calcifications. Because of an autosomal recessive inheritance pattern of IACI, fetal echocardiography is recommended in futu re pregnancies of all affected families.