Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study
Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study
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DOI：
10.1016/j.pedneo.2019.10.001
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发表时间：
2020-04-01
影响因子：
2.1
通讯作者：
Lo, Fu-Sung
中科院分区：
文献类型：
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作者：
Chou, Yu-Yu;Wang, Chao-Jan;Lo, Fu-Sung
背景：特纳综合征（TS）的特征是生长障碍、原发性卵巢功能衰竭、心脏异常和其他异常。心血管异常，如二叶式主动脉瓣（BAV）、主动脉缩窄（CoA）、主动脉瓣狭窄（AS）和主动脉扩张（AD），可导致某些TS相关的早期死亡。在这项研究中，我们调查了TS的心血管表型和核型之间的相关性。方法：我们对1994年1月至2018年12月期间105例6 - 43岁的TS患者进行了回顾性队列分析。将其分为完全单体X（45，X）和其他X染色体异常两组。大多数患者接受了超声心动图（n = 88，83.8%）、心脏计算机断层扫描（CT）血管造影和/或心血管磁共振成像（MRI）（n = 58，55.2%）。我们使用独立的Student t检验、卡方检验或Fisher精确检验和log-rank检验来比较两个TS组之间的连续数据、比例和Kaplan-Meier生存分析结果的差异。TS患者中29例（27.6%）存在心血管畸形。仅在45，X组中发现BAV（n = 6）、CoA（n = 3）、AS（n = 2）、ASD（n = 1，2.5%）和PAPVR（n = 1，2.5%）。AD发作时的平均年龄为25.55 ± 5.78岁（平均值± SD）。AD发病年龄的生存分析表明两组之间无显著差异（p = 0.051）。结论：TS患者中，尤其是45，X染色体核型的TS患者，心血管异常，如BAV、CoA、AS和AD，是常见的，且可能是进展性的。他们在接受诊断后应立即接受心脏病评估，定期评估和治疗，以仔细控制血压，即使没有明显的先天性心脏病。版权所有（C）2019台湾儿科医学会.由爱思唯尔台湾有限公司出版。
Background: Turner syndrome (TS) is characterized by growth failure, primary ovarian failure, cardiac anomalies, and other anomalies. Cardiovascular abnormalities such as bicuspid aortic valve (BAV), coarctation of the aorta (CoA), aortic stenosis (AS), and aortic dilatation (AD) account for some cases of TS-related early mortality. In this study, we investigated the correlations between cardiovascular phenotypes and karyotypes in TS.Methods: We conducted a retrospective cohort analysis of 105 local patients with TS aged 6 -43 years between January 1994 and December 2018. They were categorized into two groups of complete monosomy X (45,X) and other X chromosome abnormalities. Most of the patients underwent echocardiography (n = 88, 83.8%), cardiac computed tomography (CT) angiography, and/or cardiovascular magnetic resonance imaging (MRI) (n = 58, 55.2%). We used independent the Student's t test, chi-square test or Fisher's exact test, and log- rank test to compare differences in continuous data, proportions, and Kaplan-Meier survival analysis results between the two TS groups.Results: 45,X was the most common karyotype (n = 47, 44.8%). Phenotypically, cardiovascular malformations were found in 29 patients with TS (27.6%). BAV (n = 6), CoA (n = 3), AS (n = 2), ASD (n = 1, 2.5%), and PAPVR (n = 1, 2.5%) were found in only the 45,X group. The mean age at AD onset was 25.55 +/- 5.78 years (mean +/- SD). Survival analysis of age at onset of AD demonstrated no significant difference between the two groups (p = 0.051).Conclusion: Cardiovascular abnormalities, such as BAV, CoA, AS, and AD, are common and potentially progressive in patients with TS, especially those with the 45,X karyotype. They should receive immediate cardiological assessments upon receiving diagnosis, regular assessments, and treatment to carefully control blood pressure, even with no apparent congenital heart disease. Copyright (C) 2019, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC.