Lin A E, Lippe B, Rosenfeld R G
Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Pediatrics. 1998 Jul;102(1):e12. doi: 10.1542/peds.102.1.e12.
Although cardiovascular malformations (CVMs) are well-recognized congenital anomalies in Turner syndrome, aortic dilation and dissection are less common and less familiar. Most of the relevant literature is limited to single cases reports or small series. We sought to increase the information available about the frequency and characteristics of aortic dilation in patients with Turner syndrome.
A 1-page survey of cardiac abnormalities, including aortic dilation, was mailed to approximately 1000 (1040 verified) members of the Turner Syndrome Society as an enclosure in the June 1997 newsletter. We also conducted a literature review.
A total of 245 patients or families of patient members of the Turner Syndrome Society responded to the survey ( approximately 24% response rate).
A CVM was reported in 120 of 232 (52%) respondents to this questionnaire. Obstructive lesions of the left side of the heart predominated and included bicuspid aortic valve (38%) and coarctation (41%). Aortic dilation was reported in at least 15 of 237 respondents (6.3%; 95% confidence interval: 3.6%-10.3%); 2 of 15 (13%) had dissection. Twelve of 15 (80%) patients had an associated risk factor for aortic dilation such as a CVM or hypertension. The 3 (20%) patients who did not have a CVM or hypertension were all younger than 21 years. In the entire group with aortic dilation, 10 of 15 (67%) patients were younger than 21 years. All patients with aortic dilation had involvement of the ascending aorta, and 2 had additional involvement of the descending aorta distal to a repaired coarctation. An update of the literature revealed 68 patients with aortic dilation, dissection, or rupture. An associated CVM or hypertension was reported in 53 of 59 (90%) informative patients. At least 6 (10%) had no predisposing risk factor (information was inadequate for 9 of 68 patients). The following patterns of aortic involvement were identified: ascending +/- descending aorta with coarctation (14); ascending +/- descending aorta without coarctation (39); descending aorta with coarctation (3); descending thoracic or abdominal aorta without coarctation (4); and unspecified (8). Dissection or rupture was reported in 42/68 (62%). Two reported patients died suddenly from aortic dissection in the third trimester of assisted pregnancy. At least 20 (29%) patients were younger than 21 years. One of the 6 (17%) patients with isolated aortic dilation was in this younger group.
More information is needed about the frequency and natural history of aortic dilation in Turner syndrome. This work contributes new patient data and increases the literature review. Despite the well-recognized limitations of self-reporting, this survey detected aortic dilation with or without dissection in approximately 6% of patients with Turner syndrome. Although rare, this is a potentially catastrophic occurrence, warranting greater awareness among health professionals. In this study and the literature, the vast majority of patients with aortic dilation have an associated risk factor such as a CVM, typically bicuspid aortic valve or coarctation, or systemic hypertension. These patients represent a higher risk group that should be followed appropriately, usually under the direction of a cardiologist. Patients undergoing assisted pregnancy also should be evaluated closely. It is generally accepted that at the time of diagnosis of Turner syndrome, all patients should have a complete cardiology evaluation including echocardiography. The small number of patients with aortic dilation without a CVM, who would not be under the long-term care of a cardiologist, makes it prudent to screen all patients with Turner syndrome for this potentially lethal abnormality. The specific timing for this screening is controversial. Our recommendations for prospective imaging do not represent a rigid standard of care.
虽然心血管畸形（CVMs）是特纳综合征中公认的先天性异常，但主动脉扩张和夹层并不常见且鲜为人知。大多数相关文献仅限于单病例报告或小系列研究。我们试图增加有关特纳综合征患者主动脉扩张的发生率和特征的可用信息。
1997年6月的通讯中附带了一份关于心脏异常（包括主动脉扩张）的1页调查问卷，邮寄给了特纳综合征协会的约1000名（1040名经核实）成员。我们还进行了文献综述。
特纳综合征协会的245名患者或患者家庭成员回复了调查问卷（回复率约为24%）。
在这份问卷的232名受访者中有120名（52%）报告有CVM。心脏左侧的阻塞性病变占主导，包括二叶式主动脉瓣（38%）和缩窄（41%）。在237名受访者中至少有15名（6.3%；95%置信区间：3.6%-10.3%）报告有主动脉扩张；15名中有2名（13%）发生夹层。15名患者中有12名（80%）有主动脉扩张的相关危险因素，如CVM或高血压。3名（20%）没有CVM或高血压的患者均小于21岁。在整个主动脉扩张组中，15名患者中有10名（67%）小于21岁。所有主动脉扩张患者均有升主动脉受累，2名患者在修复缩窄远端的降主动脉也有额外受累。文献更新显示有68例主动脉扩张、夹层或破裂患者。59名有信息的患者中有53名（90%）报告有相关的CVM或高血压。至少6名（10%）没有易感危险因素（68名患者中有9名信息不足）。确定了以下主动脉受累模式：升主动脉+/-降主动脉伴缩窄（14例）；升主动脉+/-降主动脉不伴缩窄（39例）；降主动脉伴缩窄（3例）；降胸主动脉或腹主动脉不伴缩窄（4例）；未明确（8例）。42/68（62%）报告有夹层或破裂。2名报告患者在辅助妊娠晚期因主动脉夹层突然死亡。至少20名（29%）患者小于21岁。6名孤立性主动脉扩张患者中有1名（17%）在这个较年轻的组中。
需要更多关于特纳综合征患者主动脉扩张的发生率和自然史的信息。这项工作提供了新的患者数据并增加了文献综述。尽管自我报告存在公认的局限性，但这项调查在约6%的特纳综合征患者中检测到了有或无夹层的主动脉扩张。虽然罕见，但这是一种潜在的灾难性事件，需要健康专业人员提高认识。在本研究和文献中，绝大多数主动脉扩张患者有相关危险因素，如CVM，通常是二叶式主动脉瓣或缩窄，或系统性高血压。这些患者代表了一个高危组，通常应在心脏病专家的指导下进行适当随访。接受辅助妊娠的患者也应密切评估。一般认为，在诊断特纳综合征时，所有患者都应进行包括超声心动图在内的全面心脏评估。少数没有CVM的主动脉扩张患者不会在心脏病专家的长期护理之下，因此对所有特纳综合征患者进行这种潜在致命异常的筛查是谨慎的。这种筛查的具体时机存在争议。我们对前瞻性成像的建议并不代表严格的护理标准。
