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Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations

Idiopathic infantile arterial calcification (IIAC) is a rare disorder characterized by extensive calcification of medium and large arteries. We report the case of a 32-week-old infant with hydrops fetalis and heart failure who died at 4 days of age. At autopsy the infant was found to have cardiomegaly, myocardial infarctions and multifocal calcifications of the aorta and arteries in the lungs, heart, thyroid, spleen, and testis. Calcification extended from the internal elastic lamina into the intima and media and was associated with a giant-cell reaction and smooth muscle proliferation. A search of the English language medical literature identified 161 IIAC case reports. Of these, 48% of cases presented in utero or at birth with hydrops fetalis, maternal hydramnios, heart failure, or respiratory distress and 52% present later, at a median age of 3 months, with sudden onset of fever, vomiting, irritability, or respiratory distress in a previously healthy infant. Significantly, 19 of 22 IIAC survivors presented at less than 2 weeks of age, and 15 survivors were treated with diphosphonates.