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An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.

Authors :
Suntharesan, Jananie
Agarwal, Umber
Lim, Joyce
Collingwood, Catherine
Avula, Shivaram
Mughal, M. Zulf
Nitschke, Yvonne
Botschen, Ulrike
Rutsch, Frank
Ramakrishnan, Renuka
Source :
Calcified Tissue International. Dec2022, Vol. 111 Issue 6, p646-652. 7p.
Publication Year :
2022

Abstract

Generalised arterial calcification of infancy (GACI) is an ultra-rare life-threatening genetic disorder. Arterial calcification is identified during foetal ultrasound scan (USS) as increased cardiac and/or vascular echogenicity. Inorganic pyrophosphate (PPi) is the main inhibitor of arterial calcification. Pathogenic variants in ENPP1, ABCC6 and NT5E causing low PPi lead to ectopic calcifications. Rheumatoid arthritis (RA) is an acquired condition that can also lead to arterial calcification in adults. We present an extremely rare case of a transient GACI-like condition identified during foetal echocardiogram of an infant born to a mother diagnosed with RA, which spontaneously resolved postnatally. This case highlights that foetal ultrasound scans of pregnant women with RA should be carefully evaluated for cardiovascular calcifications. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
0171967X
Volume :
111
Issue :
6
Database :
Academic Search Index
Journal :
Calcified Tissue International
Publication Type :
Academic Journal
Accession number :
159899485
Full Text :
https://doi.org/10.1007/s00223-022-01026-3