Prenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy

Abstract Generalized arterial calcification of infancy (GACI) is an ultra-rare, potentially life-threatening disorder of the mineralization of which obstetricians and neonatologists shall be aware. This study aimed to describe twins with ATP binding cassette subfamily C member-6 (ABCC6) mutations leading to type II-GACI phenotype in one of them, their multidisciplinary management, and very long-term (10 years) follow-up. One of the twins had typical calcifications in the ascending aorta and the aortic arc, leading to severe neonatal arterial hypertension needing anti-hypertensive treatment. A therapy with bisphosphonates was also provided for 3 weeks with the disappearance of calcifications and resolution of hypertension. Ten-year follow-up was completely normal. Patients were found to carry a heterozygous mutation of ABCC6. Type II-GACI can be managed with a multi-disciplinary approach and good long-term outcomes despite the occurrence of severe neonatal arterial hypertension.