Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.

Abstract

Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months. Early diagnosis and treatment with bisphosphonates have been shown to improve survival in these patients. This is a case report of a newborn with respiratory distress who was initially diagnosed with coarctation of the aorta at echocardiography. Further imaging with CT revealed the aortic narrowing to be associated with GACI. Keywords: Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.