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Am J Perinatol
DOI: 10.1055/a-2628-9607
Short Communication

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

Daniele De Luca 
1   Division of Pediatrics and Neonatal Critical Care, APHP-Paris Saclay University, Paris, France
2   Physiopathology and Therapeutic Innovation Unit-INSERM U999, Paris Saclay University, Paris, France
,
Daniela Laux
3   Pediatric Cardiology, Marie Lannelongue Medical Centre, Paris, France
,
Giulia Regiroli
1   Division of Pediatrics and Neonatal Critical Care, APHP-Paris Saclay University, Paris, France
2   Physiopathology and Therapeutic Innovation Unit-INSERM U999, Paris Saclay University, Paris, France
,
Alexandra Benachi
4   Division of Obstetrics and Gynecology, APHP-Paris Saclay University, Paris, France
,
Alexandre J. Vivanti
4   Division of Obstetrics and Gynecology, APHP-Paris Saclay University, Paris, France
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Funding None.
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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


Publikationsverlauf

Eingereicht: 14. Januar 2025

Angenommen: 05. Juni 2025

Accepted Manuscript online:
06. Juni 2025

Artikel online veröffentlicht:
24. Juni 2025

© 2025. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

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