Endocrine Abstracts (2017) 49 GS1.4 | DOI: 10.1530/endoabs.49.GS1.4

Cardiovascular health issues in turner syndrome

Philippe Backeljauw



Individuals with Turner syndrome (TS) have an increased risk for congenital and acquired cardiovascular disease (23–50%). This results in increased morbidity and mortality throughout the TS lifespan. There is an increased prevalence of bicuspid aortic valve malformation, coarctatio of the aorta, elongation of the transverse aortic arch, and partial anomalous venous return. In addition, TS females may develop aortopathy that may result in clinically significant aortic dilatation, which occasionally leads to dissection or rupture. Other cardiovascular conditions such as hypertension, coronary heart disease, and cerebrovascular disease (stroke) further reduce the lifespan of TS individuals. Because of this high prevalence of cardiovascular disease, any care provider should have some familiarity with the non-invasive cardiac imaging techniques required for diagnosis and management. Imaging modalities include transthoracic echocardiography and cardiac magnetic resonance imaging. Echocardiography is useful in the diagnosis of a bicuspid aortic valve and other congenital heart diseases, and can be used for surveillance of aortic dilatation. Some abnormalities, such as elongation of the transverse aortic arch and partially anomalous pulmonary venous return, are not as readily ascertained by ultrasound however, and cardiac magnetic resonance imaging is now commonly used as a screening and surveillance tool, especially in adult TS patients. The newly developed clinical care guidelines for girls and women with TS include very specific recommendations on which aortic dimensions may warrant consideration for close monitoring and possible operative intervention. They also provide guidance in decision-making regarding participation in various sports disciplines, and greatly clarify when more frequent cardiovascular health monitoring may be beneficial. It is important that both pediatric and adult endocrinologists, as well as reproductive endocrinologists, are familiar with the updated recommendations for cardiovascular health management in TS, in order to coordinate care with the cardiologists and to facilitate over health maintenance of girls and women with TS.

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