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.
摘要：
婴儿期广泛性动脉钙化（GACI）是一种非常罕见的危及生命的遗传性疾病。在胎儿超声扫描(USS)期间,将动脉钙化识别为增加的心脏和/或血管回声性。无机焦磷酸盐(PPi)是动脉钙化的主要抑制剂。引起低PPi的ENPP1、ABCC6和NT5E的致病变异导致异位钙化。类风湿性关节炎（RA）是一种获得性疾病，也可能导致成人动脉钙化。我们介绍了在诊断为RA的母亲所生的婴儿的胎儿超声心动图中发现的一种短暂性GACI样疾病的极为罕见的病例，在出生后自发解决。这种情况突出表明，应仔细评估患有RA的孕妇的胎儿超声扫描是否存在心血管钙化。
