Division of Pediatric Endocrinology and Genetics, Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
Department of Radiology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
Pediatr Neonatol. 2020 Apr;61(2):188-194. doi: 10.1016/j.pedneo.2019.10.001. Epub 2019 Oct 11.
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.
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.
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).
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.
特纳综合征（TS）的特征是生长发育迟缓、原发性卵巢功能衰竭、心脏畸形和其他异常。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），占部分 TS 相关早期死亡病例的原因。在本研究中，我们研究了 TS 患者心血管表型与核型之间的相关性。
我们对 1994 年 1 月至 2018 年 12 月期间年龄在 6-43 岁的 105 例本地 TS 患者进行了回顾性队列分析。他们分为完全单体 X（45,X）和其他 X 染色体异常两组。大多数患者进行了超声心动图（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%）。我们使用独立学生 t 检验、卡方检验或 Fisher 精确检验以及对数秩检验来比较两组 TS 患者之间连续数据、比例和 Kaplan-Meier 生存分析结果的差异。
45,X 是最常见的核型（n=47，44.8%）。表型上，29 例 TS 患者存在心血管畸形（27.6%）。仅在 45,X 组发现 BAV（n=6）、CoA（n=3）、AS（n=2）、ASD（n=1，2.5%）和 PAPVR（n=1，2.5%）。AD 发病年龄的平均年龄为 25.55±5.78 岁（均值±标准差）。AD 发病年龄的生存分析显示两组之间无显著差异（p=0.051）。
BAV、CoA、AS 和 AD 等心血管异常在 TS 患者中很常见，且可能具有进展性，尤其是 45,X 核型的患者。他们在确诊后应立即进行心脏评估，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。
