Yi Yan, Tong Tong, Liu Tao, Lin Qi, Xiong Yi, Xu Jinfeng
Department of Ultrasound, Shenzhen People's Hospital, Jinan University, Shenzhen, China.
Echocardiography. 2017 Feb;34(2):311-314. doi: 10.1111/echo.13420. Epub 2016 Dec 8.
Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease that is characterized by extensive calcification of the internal elastic lamina and intimal proliferation of large- and medium-sized arteries, including the aortic, coronary, pulmonary, and iliac arteries. Most reported cases of IIAC were diagnosed in the neonatal periods. Prenatal diagnosis of this condition is extremely rare and is usually made in the third trimester when fetuses had nonimmune hydrops together with aortic and pulmonary calcification. Early prenatal diagnosis can hardly be made without fetal hydrops in the second trimester. We report a case of IIAC referred to our center because of hyperechogenic tricuspid valve. The prenatal diagnosis was made by echocardiographic detection of diffuse hyperechogenicity of the cardiac valves, annuli, aorta, pulmonary artery, renal artery and common iliac artery without fetal hydrops. To the best of our knowledge, this was the first case of IIAC accurately diagnosed prenatally in the absence of fetal hydrops.
特发性婴儿动脉钙化（IIAC）是一种罕见的常染色体隐性疾病，其特征是内弹性膜广泛钙化以及大中型动脉（包括主动脉、冠状动脉、肺动脉和髂动脉）内膜增生。大多数报道的IIAC病例在新生儿期被诊断出来。这种疾病的产前诊断极为罕见，通常在孕晚期做出诊断，此时胎儿出现非免疫性水肿并伴有主动脉和肺动脉钙化。如果孕中期没有胎儿水肿，很难进行早期产前诊断。我们报告了一例因三尖瓣回声增强转诊至我们中心的IIAC病例。产前诊断是通过超声心动图检测到心脏瓣膜、瓣环、主动脉、肺动脉、肾动脉和髂总动脉弥漫性回声增强，而胎儿没有水肿。据我们所知，这是第一例在没有胎儿水肿的情况下准确产前诊断出的IIAC病例。
