Saravu Vijayashankar Sakethram, Culham J A Gordon, Moodley Shreya
BC Children's Hospital, Vancouver, British Columbia, Canada.
Cardiol Young. 2020 Nov;30(11):1738-1740. doi: 10.1017/S1047951120002644. Epub 2020 Sep 8.
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.
动脉迂曲综合征（ATS）是一种罕见的常染色体隐性遗传性结缔组织疾病。它主要累及动脉系统，临床特征反映了受累的系统。在高危家庭的产前筛查超声检查中，曾有少数疑似ATS的病例，但均未得到确诊。我们报告了首例通过级联检测在胎儿期产前确诊的ATS病例，同时也在母亲身上检测到了该疾病。
