GACI
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder characterized by calcification and thickening of the walls of large- and medium-sized arteries. It most often presents in infancy, frequently in the neonatal period, and can cause hypertension, heart failure, and vascular insufficiency due to progressive arterial stenosis.
Genetics and pathophysiology: The majority of cases are due to loss-of-function mutations in ENPP1, with a smaller
Clinical features and diagnosis: In affected infants, imaging may reveal extensive arterial calcifications, especially along the
Management and prognosis: There is no cure. Treatment is supportive and aims to manage heart failure, hypertension,