A case of generalized arterial calcification in infancy
10.3760/cma.j.cn113903-20241016-00686
- VernacularTitle:婴儿泛发性动脉钙化症1例
- Author:
Haibo CAO
1
;
Ningxia MA
;
Tiangang LI
;
Hongxia TIE
;
Bin MA
Author Information
1. 甘肃省妇幼保健院超声医学中心，兰州 730050
- Publication Type:Journal Article
- Keywords:
Generalized arterial calcification;
Ultrasonography;
Hypertension;
Fetus;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2025;28(12):1143-1145
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of generalized arterial calcification in infancy (GACI), which was suspected prenatally and confirmed postnatally. At 24 weeks of gestation, a systematic ultrasound revealed aortic wall thickening with hyperechogenicity, a thickened mitral valve accompanied by hyperechoic changes, thickened and calcified tricuspid valves, and multiple hyperechoic foci in both ventricles. A follow-up echocardiography at 28 weeks showed no significant progression. Emergency cesarean section was performed at 31 weeks due to fetal distress. Postnatal echocardiography confirmed generalized arterial calcification. Whole-exome trio sequencing identified two variants in the ENPP1 gene: c.1274-2A>G and c.1437+3(IVS14)_c.1437+6(IVS14)delGAGT. Based on imaging, laboratory results, and genetic testing, the infant was diagnosed with GACI type 1, concomitant with autosomal recessive hypophosphatemic rickets type 2. Given the poor prognosis, the family withdrew from further medical intervention.
