特纳氏综合征的心血管方面的诊断和治疗

A. Borg, E. Brabant, M. Schmitt
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引用次数: 0

摘要

特纳综合征(Turner 's syndrome, TS)是一种较为常见的染色体异常,常与心血管异常相关,如二尖瓣主动脉瓣和主动脉缩窄,以及高血压、甲状腺功能减退、糖尿病等心血管危险因素。流行病学研究表明,这些患者心血管发病率和死亡率增加。此外,至少在理论上存在这样的可能性,即旨在解决这些患者身材矮小和激素缺乏的成熟治疗可能会对他们的心血管风险状况产生负面影响。此外,TS中常见的先天性结构异常以及与之相关的长期并发症,需要利用各种心血管成像方式进行定期监测,以确定是否需要及时手术干预。在这篇综述中,我们总结了该综合征的主要特征,重点介绍了影响成人TS患者心血管问题的管理、诊断工作和监测的问题。
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Cardiovascular aspects in the diagnosis and management of Turner’s syndrome
Turner’s syndrome (TS) is a relatively common chromosomal abnormality frequently associated with cardiovascular abnormalities, such as a bicuspid aortic valve and coarctation of the aorta, as well as cardiovascular risk factors such as hypertension, hypothyroidism, and diabetes mellitus. Epidemiological studies have shown that these patients have increased cardiovascular morbidity and mortality. In addition, there is at least the theoretical potential that well-established treatments that are intended to address the short stature and hormonal deficiencies in these patients may negatively influence their cardiovascular risk profile. Further, the congenital structural abnormalities commonly found in TS, and long-term complications associated with them, warrant regular monitoring utilizing various cardiovascular imaging modalities to determine the need for timely surgical intervention. In this review, we summarize the main features of this syndrome, with emphasis on issues that impact the management, diagnostic work up, and monitoring of cardiovascular problems in adult patients with TS.
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