Abstract
Turner syndrome is a condition usually associated with reduced final height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequently with the syndrome. With respect to cardiac function, congenital malformations of the heart and the great vessels, hypertension and ischemic heart disease, and increased risk of aortic dissection are all conditions that the pediatrician or the physician caring for females with Turner syndrome should keep in mind. Many girls and adolescents with Turner syndrome receive growth hormone (GH) treatment, which has so far been an effective and well-tolerated therapy. Nevertheless, because of the experience from acromegaly, the physician should monitor blood pressure and perform echocardiography, together with clinical examinations by a cardiologist at regular intervals. During adulthood most women with Turner syndrome are faced with premature menopause and the need for female hormone replacement therapy (HRT). During clinical evaluation of girls and women with Turner syndrome, these conditions and complications should be kept under surveillance.
Here the cardiovascular complications of Turner syndrome are reviewed. The risk of congenital heart defects such as bicuspid aortic valves, aortic coarctation, other valve abnormalities, and septal defect is increased. Likewise, the risk of aortic dissection at a young age is increased, as is the risk of hypertension, ischemic heart disease, and stroke. GH therapy does not seem to adversely affect the heart, although longer-term follow-up studies are needed. In short-term studies, HRT lowers blood pressure, while any effect on the risk of ischemic heart disease has not been evaluated. Treatment with GH and HRT are discussed in relation to the heart and great vessels. Presently, the pathophysiology of the congenital cardiovascular malformation in Turner syndrome is unexplained, although different theories exist. Recommendations for clinical practice are given, including life-long surveillance of cardiac function, aortic diameter and blood pressure.
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Acknowledgements
Claus Højbjerg Gravholt is supported by a research fellowship by the University of Aarhus, by a grant from the Danish Diabetes Association, and the Danish Health Research Council, grant number 9600822 (Aarhus University — Novo Nordisk Center for Research in Growth and Regeneration).
Lone Svendsen, Karen Mathiasen, Joan Hansen, Lone Korsgaard, Iben Christensen, Kirsten Nyborg, Inga Bisgaard, and Merete Møller are thanked for expert technical help. Line Gether and Solveig Skærlund are thanked for expert secretarial help.
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Gravholt, C.H. Turner Syndrome and the Heart. Am J Cordiovosc Drugs 2, 401–413 (2002). https://doi.org/10.2165/00129784-200202060-00005
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DOI: https://doi.org/10.2165/00129784-200202060-00005