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

Idiopathic arterial calcification of infancy (IACI) is a rare condition characterized by extensive arterial calcification and stenoses of large and medium-sized arteries. Its complications include severe cardiac failure diagnosed in utero as hydrops fetalis or postnatally as respiratory failure combined with cardiomegaly. Two newborn male siblings with IACI are described. In utero, echocardiography revealed poor ventricular function and hyperechogenic foci in arterial walls. Both had fatal outcome during the newborn period. At autopsy, medial calcifications in the walls of great arteries, in coronary arteries, in glomeruli, and in subendocardium were detected. In addition, an inflammatory process in the shoulder joint was determined to be large periarticular tissue calcifications. Because of an autosomal recessive inheritance pattern of IACI, fetal echocardiography is recommended in future pregnancies of all affected families.