Prenatal diagnosis and 10-years follow up of type-II generalized arterial calcification of the infancy.

Abstract

Background: 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.

Objective: 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.

Results: 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 three weeks with disappearance of calcifications and resolution of the hypertension. 10-year follow up was completely normal. Patients were found to carry a heterozygous mutation of ABCC6.

Conclusion: Type II-GACI can be managed with multi-disciplinary approach and good long-term outcome despite the occurrence of severe neonatal arterial hypertension.