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Aortic distensibility and dilation in Turner’s syndrome

  • Jayendra Sharma (a1), Deborah Friedman (a1), Swati Dave-Sharma (a2) and Madeleine Harbison (a2)

Aortic dilation and dissection is reported in patients with Turner’s syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner’s syndrome, however, are unknown.


A primary mesenchymal defect is prevalent in individuals with Turner’s syndrome, suggested by having abnormalities in bone matrix, and lymphatic and peripheral blood vessels. We hypothesize that an abnormal intrinsic elastic property of aorta is a forerunner of aortic dilation in Turner’s syndrome.


Assess utility of aortic distensibility as a measure of aortic elasticity for the stratification of the risk for aortic dilation, and its relationship with age, karyotype, and hormonal therapy.


Prospective cross-sectional study.

Patients and method

We performed cross-sectional M-mode and Doppler echocardiography in 24 individuals with Turner’s syndrome. Dimensions of the aortic root, and its distensibility, were calculated using standard techniques. We also examined a control group of 24 age matched normotensive patients with structurally normal hearts, who had been referred for evaluation of cardiac murmurs or chest pain.


Aortic dilation was the most common cardiac anomaly, seen in 11 of 24 (46%) individuals with Turner’s syndrome, and none in control group. Of these individuals, 5 without cardiovascular risk factors had aortic dilation. In 2 young girls, aortic dimensions were normal, albeit with reduced distensibility. Aortic dilation correlated inversely with aortic distensibility, but not with age, karyotype or hormonal therapy.


Individuals with Turner’s syndrome, even without cardiovascular risk factors, do develop aortic dilation accompanied by decreased aortic distensibility, suggestive of an intrinsic abnormality in elastic property of the ascending aorta.

Corresponding author
Correspondence to: Jayendra Sharma, MD, FACC, Director, Pediatric Cardiology, Jamaica Hospital Medical Center, 8900, Van Wyck expressway, Cardiology Suite-First floor, Jamaica, NY 11418. Tel: 718-206-7138; Fax: 718-206-7144; E-mail:
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1.Saenger, P. Current concepts: Turner syndrome. N Eng J Med 1996; 335: 17491754.
2.Lin, AE, Lippe, B, Rosenfeld, RG. Further delineation of aortic dilation, dissection and rupture in patients with Turner syndrome. Pediatrics 1998; 102: e12.
3.Price, WH, Clayton, JF, Collyer, S, DeMey, R, Wilson, J. Mortality ratios, life expectancy and causes of death in patients with Turner syndrome. J Epidemio Community Health (Eng) 1986; 40: 97102.
4.Gravholt, C, Landin-Wilhelmsen, K, Stockholm, K, et al. Clinical and epidemiological description of aortic dissection in Turner syndrome. Cardiol Young 2006; 16: 430436.
5.Sybert, VP, McCauley, E. Turner syndrome. N Eng J Med 2004; 351: 12271238.
6.Sachdev, V, Matura, LA, Sidenko, S, Ho, VB, Arai, AE, Rosing, DR, Bondy, CA. Aortic valve disease in Turner syndrome. JACC 2008; 51: 19041909.
7.Lopez, L, Arheart, KL, Colan, SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics 2008; 121: 622627.
8.Fedak, PW, de Sa, MP, Verma, S, Nilli, N, et al. Vascular matrix remodeling in patients with bicuspid aortic valve malformation: implications for aortic dilation. J Thorac Cardiovasc Surg 2003; 126: 797806.
9.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.
10.Hirata, K, Triposkiadis, F, Sparks, E, Wooley, CF, Bowen, J, Boudoulas, H. The Marfan syndrome: Abnormal aortic elastic properties. J Am Coll Cardiol 1991; 18: 5763.
11.Roman, MJ, Devereux, RB, Kramer-Fox, R, O’Loughlin, J. Two dimensional echocardiographic root dimensions in normal children and adults. Am J Cardiol 1989; 64: 507512.
12.Stefanadis, C, Wooly, CF, Bush, CA, Kolibash, AJ, Boudoulas, H. Aortic distensibility abnormalities in coronary artery disease. Am J Cardiol 1987; 59: 13001304.
13.Carlson, M, Silberbach, M. Aortic dissection in Turner syndrome: two case reports and review of 85 cases in literature. J Med Genet 2007; 44: 745749.
14.Loeys, BL, Schwarze, U, Holm, T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Eng J Med 2006; 355: 788798.
15.Stefanadis, C, Stratos, C, Boudoulas, H, Kourouklis, C, Toutouzas, P. Aortic distensibility: comparision of noninvasive and invasive techniques. Eur Heart J 1990; 11: 990996.
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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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