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Clinical and epidemiological description of aortic dissection in Turner's syndrome

Published online by Cambridge University Press:  20 September 2006

Claus Højbjerg Gravholt
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Århus Sygehus, Århus University Hospital, Denmark
Kerstin Landin-Wilhelmsen
Research Center for Endocrinology and Metabolism, Sahlgrenska University Hospital, Göteborg, Sweden
Kirstine Stochholm
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Århus Sygehus, Århus University Hospital, Denmark
Britta Eilersen Hjerrild
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Århus Sygehus, Århus University Hospital, Denmark
Thomas Ledet
Laboratory of Biochemical Pathology, Århus Sygehus, Århus University Hospital, Denmark
Christian Born Djurhuus
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Århus Sygehus, Århus University Hospital, Denmark
Lisskulla Sylvén
Department of Woman and Child Health, Karolinska University Hospital, Solna, Stockholm, Sweden
Ulrik Baandrup
Department of Pathology, Århus University Hospital, Århus Sygehus, Denmark
Bent Østergaard Kristensen
Department of Cardiology, Skejby Hospital, Århus University Hospital, Denmark
Jens Sandahl Christiansen
Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Århus Sygehus, Århus University Hospital, Denmark


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.

Original Article
© 2006 Cambridge University Press

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Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51: 147158.Google Scholar
Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004; 110: 16941700.Google Scholar
Dawson FKL, Wright AM, Bakker B, Pitlick PT, Rosenfeld RG. Cardiovascular evaluation in Turner syndrome: utility of MR imaging. Australas Radiol 1992; 36: 204209.Google Scholar
Mazzanti L , Cacciari E. Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 1998; 133: 688692.Google Scholar
Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998; 101: E11E17.Google Scholar
Gotzsche CO, Krag Olsen B, Nielsen J, Sorensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994; 71: 433436.Google Scholar
Elsheikh M, Casadei B, Conway GS, Wass JA. Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome. Clin Endocrinol (Oxf) 2001; 54: 6973.Google Scholar
Baguet JP, Douchin S, Pierre H, Rossignol AM, Bost M, Mallion JM. Structural and functional abnormalities of large arteries in the Turner syndrome. Heart 2005; 91: 14421446.Google Scholar
Ostberg JE, Donald AE, Halcox JP, Storry C, McCarthy C, Conway GS. Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab 2005; 90: 51615166.Google Scholar
Lin AE, Lippe B, Rosenfeld RG. Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatr Electron Pages 1998; 102: 1220.Google Scholar
Juel K, Helweg-Larsen K. The Danish registers of causes of death. Dan Med Bull 1999; 46: 354357.Google Scholar
Isselbacher EM. Diseases of the aorta. In: Braunwald E, Zipes DP, Libby P, Bonow RO (eds.). Braunwald's Heart Disease. Elsevier Saunders, Philadelphia, 2004, pp. 14031436.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996; 312: 1621.Google Scholar
Landin-Wilhelmsen K, Bryman I, Hanson C, Hanson L. Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism. J Assist Reprod Genet 2004; 21: 229230.Google Scholar
Bickerstaff LK, Pairolero PC, Hollier LH, et al. Thoracic aortic aneurysms: a population-based study. Surgery 1982; 92: 11031108.Google Scholar
Hagan PG, Nienaber CA, Isselbacher EM, et al. The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease. JAMA 2000; 283: 897903.Google Scholar
Larson EW, Edwards WD. Risk factors for aortic dissection: a necropsy study of 161 cases. Am J Cardiol 1984; 53: 849855.Google Scholar
Spittell PC, Spittell Jr JA, Joyce JW, et al. Clinical features and differential diagnosis of aortic dissection: experience with 236 cases (1980 through 1990). Mayo Clin Proc 1993; 68: 642651.Google Scholar
Roberts WC. Aortic dissection: anatomy, consequences, and causes. Am Heart J 1981; 101: 195214.Google Scholar
Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86: 30613069.Google Scholar
Mosbech J, Jorgensen J, Madsen M, Rostgaard K, Thornberg K, Poulsen TD. [The national patient registry. Evaluation of data quality]. Ugeskr Laeger 1995; 157: 37413745.Google Scholar
Nienaber CA, Eagle KA. Aortic dissection: new frontiers in diagnosis and management: Part I: from etiology to diagnostic strategies. Circulation 2003; 108: 628635.Google Scholar
Immer FF, Bansi AG, Immer-Bansi AS, et al. Aortic dissection in pregnancy: analysis of risk factors and outcome. Ann Thorac Surg 2003; 76: 309314.Google Scholar
McCullagh KA, Balian G. Collagen characterisation and cell transformation in human atherosclerosis. Nature 1975; 258: 7375.Google Scholar
von Kaisenberg CS, Prols F, Nicolaides KH, Maass N, Meinhold-Heerlein I, Brand-Saberi B. Glycosaminoglycans and proteoglycans in the skin of aneuploid fetuses with increased nuchal translucency. Hum Reprod 2003; 18: 25442561.Google Scholar
Loscalzo ML, Van PL, Ho VB, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics 2005; 115: 732735.Google Scholar
Nielsen J, Sillesen I, Hansen KB. Fertility in women with Turner's syndrome. Case report and review of literature. Br J Obstet Gynaecol 1979; 86: 833835.Google Scholar
Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med 1999; 31: 106110.Google Scholar
Foudila T, Soderstrom-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum Reprod 1999; 14: 532535.Google Scholar
Bodri D, Vernaeve V, Figueras F, Vidal R, Guillen JJ, Coll O. Oocyte donation in patients with Turner's syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Hum Reprod 2006; 21: 829832.Google Scholar
Swapp GH, Johnston AW, Watt JL, Couzin DA, Stephen GS. A fertile woman with non-mosaic Turner's syndrome. Case report and review of the literature. Br J Obstet Gynaecol 1989; 96: 876880.Google Scholar
Kaneko N, Kawagoe S, Hiroi M. Turner's syndrome–review of the literature with reference to a successful pregnancy outcome. Gynaecol Obstet Invest 1990; 29: 8187.Google Scholar
Birdsall M, Kennedy S. The risk of aortic dissection in women with Turner syndrome [letter]. Hum Reprod 1996; 11: 15871587.Google Scholar
Nagel TC, Tesch LG. ART and high risk patients! [letter]. Fertil Steril 1997; 68: 748749.Google Scholar
Beauchesne LM, Connolly HM, Ammash NM, Warnes CA. Coarctation of the aorta: outcome of pregnancy. J Am Coll Cardiol 2001; 38: 17281733.Google Scholar
Weytjens C, Bove T, Van Der NP. Aortic dissection and Turner's syndrome. J Cardiovasc Surg (Torino) 2000; 41: 295297.Google Scholar
The Practice Committee of the American Society for Reproductive Medicine. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril 2005; 83: 10741075.
Gravholt CH. Turner syndrome and the heart: cardiovascular complications and treatment strategies. Am J Cardiovasc Drugs 2002; 2: 401413.Google Scholar
Ostberg JE, Brookes JA, McCarthy C, Halcox J, Conway GS. A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome. J Clin Endocrinol Metab 2004; 89: 59665971.Google Scholar
Chalard F, Ferey S, Teinturier C, Kalifa G. Aortic dilatation in Turner syndrome: the role of MRI in early recognition. Pediatr Radiol 2005; 35: 323326.Google Scholar