Skip to main content Accessibility help
×
Home

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

  • Claus Højbjerg Gravholt (a1), Kerstin Landin-Wilhelmsen (a2), Kirstine Stochholm (a1), Britta Eilersen Hjerrild (a1), Thomas Ledet (a3), Christian Born Djurhuus (a1), Lisskulla Sylvén (a4), Ulrik Baandrup (a5), Bent Østergaard Kristensen (a6) and Jens Sandahl Christiansen (a1)...

Abstract

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.

Copyright

Corresponding author

Correspondence to: Claus Højbjerg Gravholt MD, PhD, Medical Department M (Endocrinology and Diabetes), Århus Sygehus, Nørrebrogade 44, Århus University Hospital, DK-8000 Aarhus C, Denmark. Tel: +45 89 49 20 71; Fax: +45 89 49 20 10; E-mail: ch.gravholt@dadlnet.dk

References

Hide All

References

Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51: 147158.
Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004; 110: 16941700.
Dawson FKL, Wright AM, Bakker B, Pitlick PT, Rosenfeld RG. Cardiovascular evaluation in Turner syndrome: utility of MR imaging. Australas Radiol 1992; 36: 204209.
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.
Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998; 101: E11E17.
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.
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.
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.
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.
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.
Juel K, Helweg-Larsen K. The Danish registers of causes of death. Dan Med Bull 1999; 46: 354357.
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.
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.
Bickerstaff LK, Pairolero PC, Hollier LH, et al. Thoracic aortic aneurysms: a population-based study. Surgery 1982; 92: 11031108.
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.
Larson EW, Edwards WD. Risk factors for aortic dissection: a necropsy study of 161 cases. Am J Cardiol 1984; 53: 849855.
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.
Roberts WC. Aortic dissection: anatomy, consequences, and causes. Am Heart J 1981; 101: 195214.
Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86: 30613069.
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.
Nienaber CA, Eagle KA. Aortic dissection: new frontiers in diagnosis and management: Part I: from etiology to diagnostic strategies. Circulation 2003; 108: 628635.
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.
McCullagh KA, Balian G. Collagen characterisation and cell transformation in human atherosclerosis. Nature 1975; 258: 7375.
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.
Loscalzo ML, Van PL, Ho VB, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics 2005; 115: 732735.
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.
Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med 1999; 31: 106110.
Foudila T, Soderstrom-Anttila V, Hovatta O. Turner's syndrome and pregnancies after oocyte donation. Hum Reprod 1999; 14: 532535.
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.
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.
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.
Birdsall M, Kennedy S. The risk of aortic dissection in women with Turner syndrome [letter]. Hum Reprod 1996; 11: 15871587.
Nagel TC, Tesch LG. ART and high risk patients! [letter]. Fertil Steril 1997; 68: 748749.
Beauchesne LM, Connolly HM, Ammash NM, Warnes CA. Coarctation of the aorta: outcome of pregnancy. J Am Coll Cardiol 2001; 38: 17281733.
Weytjens C, Bove T, Van Der NP. Aortic dissection and Turner's syndrome. J Cardiovasc Surg (Torino) 2000; 41: 295297.
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.
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.
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.

Keywords

Metrics

Altmetric attention score

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed