每日一题_2022.12.21

An 8-year-old girl presents to the clinic for a check-up required by her new school. She is a recent immigrant to the United States and did not have access to regular medical care growing up. Her mother reports that when her daughter was an infant she had swollen hands and feet as well as “something wrong with the sides of her neck.” The patient’s left arm is smaller than the right. When height and weight data are plotted on a growth curve, she is short for her age. What congenital cardio- vascular anomaly does this patient most likely have?

一名8岁女孩到诊所接受新学校要求的检查。她是最近移民到美国的人，没有机会获得正规医疗。她的母亲报告说，当她女儿还是个婴儿时，她的手和脚都肿了，“脖子两侧有毛病”。患者左臂小于右臂。当身高和体重数据绘制在生长曲线上时，她是小于她这个年龄的。该患者最有可能患有哪些先天性心血管异常？

(A) Postductal coarctation of the aorta 主动脉导管后缩窄

(B) Preductal coarctation of the aorta 主动脉导管前缩窄

(C) Subclavian steal syndrome锁骨下动脉盗血综合征

(D) Tetralogy of Fallot 法洛四联症

(E) Transposition of the great vessels大血管转位

答案解析：

特纳综合征是一种染色体异常，是由于胎儿的两个 X 染色体组中的一个全部或部分丢失（一个 X 染色体短臂上的一组基因缺失）所致。该患者具有特征性的身材矮小和蹼颈，常见于 Turner 患者。Turner 综合征的其他临床表现包括扁平、盾状胸部（乳头间隔较宽）、肘部携带角较宽和新生儿手足先天性淋巴水肿。特纳综合征患者发生心脏异常的风险高于同龄人，最常见的是主动脉缩窄。缩窄通常发生在导管前，如果累及左锁骨下动脉，由于血流受损，可导致左臂较小。

正确答案：B