Turner Syndrome in Girls Presenting with Coarctation of the Aorta
Turner Syndrome in Girls Presenting with Coarctation of the Aorta
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DOI：
10.1016/j.jpeds.2015.08.002
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发表时间：
2015-11-01
影响因子：
5.1
通讯作者：
Botto, Lorenzo D.
中科院分区：
文献类型：
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作者：
Eckhauser, Aaron;South, Sarah T.;Botto, Lorenzo D.
目的 评估全州范围内主动脉缩窄女孩队列中特纳综合征的发生率。研究设计 犹他州出生缺陷网络用于确定 1997 年至 2011 年间患有主动脉缩窄女孩队列。纳入了孤立性主动脉缩窄或横弓发育不全的活产，并排除了特纳综合征中常见的复杂先天性心脏病患者。 结果 在 244 名患有主动脉缩窄的女孩中，排除了 77 名患者，留下了 167 名女孩的队列； 86 名患者 (51%) 进行了染色体检查，其中 21 名 (12.6%) 被诊断患有特纳综合征。所有患者均在出生后 4 个月内确诊，其中 5 例（24%）在产前诊断。除主动脉缩窄外，15 名患者 (71%) 还出现特纳综合征相关症状。患有马赛克的女孩出现特纳综合征相关症状的可能性较小（马赛克女孩为 3/6，而非马赛克女孩为 12/17，45，X）。 12 名被诊断患有特纳综合征的女孩 (57%) 也有主动脉瓣双合瓣。结论 出生时患有主动脉缩窄的女孩中至少有 12.6% 患有经核型证实的特纳综合征。如此高的频率，加上早期诊断的临床益处，支持对患有主动脉缩窄的女孩进行特纳综合征的基因筛查。
Objective To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta.Study design The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded.Results Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45, X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve.Conclusion At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta.