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