Idiopathic infantile arterial calcification is characterized by extensive calcium deposition in the internal elastic lamina and intimal proliferation of the heart and medium large sized arteries causing narrowing of vessel lumens. It is a rare autosomal recessive disease with poor prognosis and limited treatment options. The genetic mutation involves inactivation of ectonucleotide pyrophosphatase/phosphodiesterase. Presenting symptoms include lethargy, poor feeding, vomiting, respiratory distress and shock. In utero, prenatal ultrasound demonstrates fetal hydrops and cardiomegaly. Postnatally, hyperechogenicity and arterial wall thickening, AV valve regurgitation and ventricular dysfunction are also notable on echocardiogram.
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