Cardiovascular malformations and complications in Turner syndrome
Cardiovascular malformations and complications in Turner syndrome
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DOI：
10.1542/peds.101.1.e11
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发表时间：
1998-01-01
期刊：
影响因子：
8
通讯作者：
Sybert, VP
中科院分区：
文献类型：
--
作者：
Sybert, VP
背景特纳综合征（性腺发育不全伴性染色体异常）被认为是一种常见的心血管畸形疾病。这些发现的患病率和自然史、主动脉夹层的风险以及心血管疾病的发生都是争论的主题，美国儿科学会对特纳综合征患者进行心脏筛查的建议也是如此。从横截面和纵向评估大量患者，以确定心血管畸形的患病率、主动脉夹层的风险，确定是否存在表型：可以提出具体建议的染色体组型相关性，并设计适当的筛查方案。设计和方法。收集了特纳综合征患者的数据。这些人已经在为特纳综合征自然史研究而建立的正在进行的诊所中看到。分析了体格检查、心脏病专家评估、超声心动图结果、内科和外科并发症、病历和死亡原因的数据。由于获得了超声心动图，在该人群中，462例经核型证实的特纳综合征患者中共有244例可以进行评价。此外，我们还回顾了Turner综合征患者发生主动脉夹层的医学文献。244例患者中共有136例（56%）有心血管异常，96例（71%）为结构性异常，40例（29%）为功能性异常，包括高血压（HBP）、二尖瓣脱垂和传导缺陷。主动脉和二叶式主动脉瓣缩窄，单独或组合，包括>50%的心脏畸形。二尖瓣常不能通过检查而只能通过超声心动图检测到。3例患者发生主动脉夹层。一个是创伤性的;另一个是发生在缩窄修复的部位。第三例患者有长期HBP伴恶性肥胖。在文献中，有42例Turner综合征合并主动脉夹层的病例报告。除5例外，所有患者均存在易患风险因素，即缩窄、二叶式主动脉瓣和/或HBP。在这5例中，仅2例提供了关于诱发风险因素的充分信息。没有表型：核型相关性可以得出任何肯定的。当特纳综合征的诊断，应获得筛选超声心动图。首先转诊给心脏病专家可能是合适的，但体格检查不能代替可视化。无论是否有心脏结构畸形的证据，都应该终生监测HBP。在没有结构性心脏畸形或HBP的情况下，主动脉夹层的风险似乎很小，根据目前可用的数据，似乎不需要重复超声心动图或磁共振成像来跟踪主动脉根部直径。结构畸形患者的随访方案需要个性化，大规模推荐没有什么价值。需要使用磁共振成像或心脏超声心动图进行纵向研究，以确定主动脉根部直径的正常参数并跟踪主动脉根部变化。
Background. Turner syndrome (gonadal dysgenesis with sex chromosome abnormalities) is recognized to be a disorder in which cardiovascular malformations are common. The prevalence and natural history of these findings, the risk for aortic dissection, and the occurrence of cardiovascular disease have all been the subject of debate, as have been the American Academy of Pediatrics recommendations for cardiac screening of patients with Turner syndrome.Objective. To evaluate a large population of patients both cross-sectionally and longitudinally to determine the prevalence of cardiovascular malformations, the risk for dissection of the aorta, to determine whether there are phenotype:karyotype correlations that can allow for specific recommendations, and to devise an appropriate screening protocol.Design and Methods. Data have been collected for patients with Turner syndrome. These individuals have been seen in an ongoing clinic established for the study of the natural history of Turner syndrome. Data from physical examinations, evaluations by cardiologists, echocardiography results, medical and surgical: complications, medical records, and causes of death were analyzed. A total of 244 of 462 individuals in this population with karyotype-proven Turner syndrome could be evaluated because echocardiograms had been obtained. In addition, the medical literature was reviewed for occurrences of aortic dissection in patients with Turner syndrome.Results. A total of 136 (56%) of 244 of these patients had cardiovascular abnormalities, 96 (71%) were structural, 40 (29%) were functional, including hypertension (HBP), mitral valve prolapse and conduction defects. Coarctation of the aorta and bicuspid aortic valve, alone or in combination, comprised >50% of the cardiac malformations. Bicuspid valve was often not detected by examination, but only by echocardiography. Aortic dissection occurred in three of the patients. In one, it was traumatic; in a second, it occurred at the site of coarctation repair. The third patient had long-standing HBP with malignant obesity. In the literature, there have been 42 case reports of aortic dissection in Turner syndrome. In all except 5, predisposing risk factors of coarctation, bicuspid aortic valve, and/or HBP were present. Of these 5, sufficient information regarding predisposing risk factors was provided for only 2. No phenotype:karyotype correlations could be drawn with any certainty.Conclusions. When the diagnosis of Turner syndrome is made, a screening echocardiogram should be obtained. Referral to a cardiologist first may be appropriate, but physical examination does not substitute for visualization. Individuals with and without evidence of structural cardiac malformations should be monitored for HBP on a lifelong basis. In the absence of structural cardiac malformations or HBP, the risk for aortic dissection appears small, and repeated echocardiography or magnetic resonance imaging to follow aortic root diameters does not appear to be warranted based on data currently available. Protocols for following patients with structural malformations need to be individualized, and wholesale recommendations have little merit. A longitudinal study using magnetic resonance imaging or cardiac echocardiography to establish normal parameters for aortic root diameters and to follow aortic root changes is needed.