Coronary pathology of inherited generalized arterial calcification of infancy: a case report

Generalized arterial calcification of infancy (GACI), or idiopathic infantile arterial calcification, is a rare autosomal-recessive disease recognized aAs an inherited disorder characterized by severe pathologic calcification of large- and medium-sized arteries accompanied by smooth muscle cell (SMC) hyperplasia leading to vascular obstruction [1]. The prognosis is extremely poor, with 85% of affected infants dying within the first 6 months of life. Loss-of-function mutations in the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) gene is recognized as the main defect associated with GACI [1].

Source: Cardiovascular Pathology - May 18, 2018 Category: Cardiology Authors: Duccio Federici, Sho Torii, Matteo Ciuffreda, Lorenzo Galletti, Luca Lorini, Ezio Bonanomi, Andrea Gianatti, Maria Iascone, Joohyung Park, Liang Guo, Maria E. Romero, Frank D. Kolodgie, Giulio Guagliumi, Renu Virmani Tags: Clinical Case Report Source Type: research