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

Abstract

Objective

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.

Study Design

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.

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 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.

Conclusion

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

Key Points

• 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.

Keywords

neonate - hypertension - mineralization - calcification

Publication History

Received: 14 January 2025

Accepted: 05 June 2025

Accepted Manuscript online:
06 June 2025

Article published online:
24 June 2025

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