Idiopathic Infantile Arterial Calcification and Persistent Pulmonary Hypertension

Abstract

Idiopathic infantile arterial calcification is a rare and usually fatal disorder, which is characterized by widespread vaso-occlusive disease. Presentation is variable, but refractory hypertension is typical, with symptoms of cardiorespiratory failure. Some present in utero with evidence of fetal compromise, which may manifest as hydrops fetalis and premature delivery or stillbirth. Presentation otherwise is usually in the neonatal period with 85% of cases being fatal within the first 6 months. Coronary artery involvement is a poor prognostic feature. The pathophysiology of this disorder is well documented but the underlying etiology remains unknown. An autosomal recessive metabolic disorder is thought likely and this is supported in this case. Pulmonary hypertension has not previously been reported to be a primary feature of this disease. Here we describe such a case in which a newborn underwent extracorporeal membrane oxygenation, and during this time a diagnosis of idiopathic arterial calcification was made.