The etiology of idiopathic infantile arterial calcification is unknown. It is characterized by wide spread arterial calcifications. These calcifications occur in the internal elastic lamina. Calcium incrustation of the lamina leads to rupture followed by occlusive changes. Ihe initial disease may be a primary defect of the elastic fiber.
There are approximately 100 reported cases, with several sets of siblings, similar to this case. The heredity is postulated to be autosomal recessive. The disease is so rare that it is often not recognized until autopsy.
The ultrasound findings include: normal early scans, with abnormalities developing only in the 3rd trimester, polyhydramnios, hydrops, poor cardiac contractility, a visibly calcified aorta and coronary artery origins.
Over a brief time period, there is a decline of cardiac output and fetal activity resulting in stillborns or neonatal deaths. Infants who survive for a short time suffer from poor feeding, cyanosis, heart failure, respiratory distress, and hypertension. Eighty-five percent (85%) of infants die in the first 6 months of life from myocardial infarction, and occlusive vascular disease. The diagnosis of idiopathic infantile arterial calcification should be suspected in infants presenting with evidence of heart failure and myocardial ischemia.
The pathologic characteristics of this disease include cardiac hypertrophy and tortuous coronaries with thick walls and narrow lumens, leading to myocardial infarction. Microscopically, there are calcium deposits along the internal elastic membrane of the arteries, as well as intimal fibrous thickening leading to occlusion of vessels. The most commonly affected arteries include the coronary arteries, and other medium size vessels. The central nervous system vessels are typically spared.