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Clinical and epidemiological description of aortic dissection in Turner's syndrome
- Claus Højbjerg Gravholt, Kerstin Landin-Wilhelmsen, Kirstine Stochholm, Britta Eilersen Hjerrild, Thomas Ledet, Christian Born Djurhuus, Lisskulla Sylvén, Ulrik Baandrup, Bent Østergaard Kristensen, Jens Sandahl Christiansen
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- Journal:
- Cardiology in the Young / Volume 16 / Issue 5 / October 2006
- Published online by Cambridge University Press:
- 20 September 2006, pp. 430-436
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- Article
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Background: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. Aim: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. Materials and methods: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. Results: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0–19, 20–29, 30–39, and 40+ year olds, respectively. Conclusion: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.
19 - Turner's syndrome
- from Part III - Management of specific disorders
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- By Per-Olof Janson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Marie-Louise Barrenäs, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Berit Kriström, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Charles Hanson, Department of Obstetrics and Gynaecology, Institute of the Health of the Woman and Child, University of Göteborg, Sweden, Anders Möller, Department of Psychology, University of Göteborg, Sweden, Kerstin Wilhelmsen-Landin, Endocrine division, Sahlgrenska University Hospital, Göteborg, Sweden, Kerstin Albertsson-Wikland, Göteborg Pediatric Growth Research Centre, Institute of the Health of the Woman and Child, University of Göteborg, Sweden
- Edited by Adam H. Balen, Sarah M. Creighton, Melanie C. Davies, University College London, Jane MacDougall, Richard Stanhope
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- Book:
- Paediatric and Adolescent Gynaecology
- Published online:
- 04 May 2010
- Print publication:
- 01 April 2004, pp 242-252
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- Chapter
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Summary
Introduction
Turner's syndrome (TS) is the most common sex chromosome disorder among women, affecting 1 out of 2000 liveborn girls (Gravholt et al., 1996). The main characteristics of TS include short stature and failure to enter puberty; this resuts from an accelerated rate of atresia of ovarian follicles, causing gonadal insufficiency and infertility. There is also a wide range of additional morbidities associated with the syndrome, as many other organ systems and tissues may be affected to a lesser or greater extent. Therefore, the variability of amount and degree of medical and psychosocial problems between individuals is great and the effects on health and quality of life vary from slight to profound. The need for hormone replacement therapy (HRT) to promote growth and puberty gives the paediatric endocrinologist the most central role when caring for and treating girls with TS. Among women of adult age with TS, counselling on fertility problems puts the focus on the specialists in reproductive medicine and clinical genetics, who are important members of a multidisciplinary network of different specialists in the counselling team.
Genetics
TS is a combination of clinical features caused by complete or partial loss of the second sex chromosome, with or without cell line mosaicism. It is believed that over 50% of the women with TS have a complete loss of one X chromosome (i.e. monosomy 45,X), while 20% have one normal X chromosome together with a structurally altered X chromosome.