Aortic dimensions in Turner syndrome

Emilio Quezada, Jodi Lapidus, Robin Shaughnessy, Zunqiu Chen, Michael Silberbach

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population.

Original languageEnglish (US)
Pages (from-to)2527-2532
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2015


  • Aortic Z-scores
  • Aortic dissection
  • Bicuspid aortic valve
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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