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. · GACI is an ultra-rare, potentially life-threatening disorder of the mineralization processes of which obstetricians and neonatologists shall be aware.. · Type II-GACI can be managed with a multi-disciplinary approach and good long-term outcome despite the occurrence of severe neonatal arterial hypertension.. · Type-II GACI phenotype can be similar to that of pseudoxanthoma elasticum due to heterozygous mutations of the ABCC6 gene.. · Further research is needed to understand the pathobiology of this disorder..