Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

in European Journal of Endocrinology
View More View Less
  • 1 Endocrinology Department, Saint Antoine Hospital and Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Paris, France
  • 2 Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CRMERCD), Filière FIRENDO, Endo-ERN id 739527, Paris, France
  • 3 Clinical Research Unit (URC-EST), Saint Antoine Hospital and Functional Unit of Pharmacology, Sorbonne Université, Paris, France
  • 4 Radiology Department, Saint Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France
  • 5 Congenital Heart Disease Unit, Cardiology Department, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France
  • 6 Inserm Unit UMR-S933, Paris, France

Correspondence should be addressed to B Donadille; Email: bruno.donadille@aphp.fr
Restricted access

Objective:

Turner syndrome (TS) is a rare disorder affecting 1/2500 female newborn. Aortic dilatation (AD) and aortic dissection represent a major concern in TS. The aims of our study were to describe the aortic root growth, potential aortic dilatation (AD) risk factors and cardiovascular outcomes in a cohort of patients with TS.

Methods:

Among 204 adult patients included, 197 were studied using a standardized 1.5 Tesla MRI protocol. AD was defined as an aortic diameter ≥20 mm/m2 at the Valsalva sinuses and/or at the ascending aorta, when indexed to body surface area.

Results:

At baseline, AD was present in 81/197 (41.1%) and 32/197 (16.2%) of patients, at the levels of Valsalva and ascending aorta, respectively. The aortic Valsalva diameter was larger in patients treated for thyroiditis (P < 0.001). Potential risk factors of AD were aging (P < 0.001) and the presence of bicuspid aortic valve (BAV) (P = 0.002). The hazard ratio (HR) of AD occurrence in the presence of BAV was 2.2 (95% CI: 1.33–3.71). After a median follow-up period of 5.1 years (n = 143), AD was present in 58/143 (40.6%) and 25/143 (17.5%) of patients at the levels of Valsalva and ascending aorta, respectively. The median aortic growth of the Valsalva sinuses remained stable. At the ascending aorta, it increased by 0.14 ± 0.61 mm/year. Only one aortic-related death was observed.

Conclusion:

AD is common in adult patients with TS. However, our results are rather reassuring, as the median aortic diameters remained stable after 5.1 years and few aortic events were observed.

Supplementary Materials

    • Supplemental TABLE 1: Baseline clinical characteristics of the patient in the aortic growth analysis (n=143 with TS and MRIs at least performed twice). Results are expressed as number of patients and percentages, or median value and inter-quartile range (IQR). Missing values: (a) n=1 ; (b) n=2 ; (c) n=3.

 

     European Society of Endocrinology

Sept 2018 onwards Past Year Past 30 Days
Abstract Views 506 506 499
Full Text Views 26 26 26
PDF Downloads 20 20 20
  • 1

    Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nature Reviews: Endocrinology 2019 15 601614. (https://doi.org/10.1038/s41574-019-0224-4)

    • Search Google Scholar
    • Export Citation
  • 2

    Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA & Rubin K Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology 2017 177 G1G70. (https://doi.org/10.1530/EJE-17-0430)

    • Search Google Scholar
    • Export Citation
  • 3

    Sachdev V, Matura LA, Sidenko S, Ho VB, Arai AE, Rosing DR, Bondy CA. Aortic valve disease in Turner syndrome. Journal of the American College of Cardiology 2008 51 19041909. (https://doi.org/10.1016/j.jacc.2008.02.035)

    • Search Google Scholar
    • Export Citation
  • 4

    Corbitt H, Gutierrez J, Silberbach M, Maslen CL. The genetic basis of Turner syndrome aortopathy. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 2019 181 117125. (https://doi.org/10.1002/ajmg.c.31686)

    • Search Google Scholar
    • Export Citation
  • 5

    Fiot E, Zénaty D, Boizeau P, Haignere J, Dos Santos S, Léger J & French Turner Syndrome Study Group. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood. European Journal of Endocrinology 2019 180 397406. (https://doi.org/10.1530/EJE-18-0878)

    • Search Google Scholar
    • Export Citation
  • 6

    Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, De Backer J, Eagle KA, Hiratzka LF & Johnson WH Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circulation: Genomic and Precision Medicine 2018 11 e000048. (https://doi.org/10.1161/HCG.0000000000000048)

    • Search Google Scholar
    • Export Citation
  • 7

    Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA & United Kingdom Clinical Cytogenetics Group. Mortality in women with turner syndrome in Great Britain: a national cohort study. Journal of Clinical Endocrinology and Metabolism 2008 93 47354742. (https://doi.org/10.1210/jc.2008-1049)

    • Search Google Scholar
    • Export Citation
  • 8

    Thunström S, Krantz E, Thunström E, Hanson C, Bryman I, Landin-Wilhelmsen K. Incidence of aortic dissection in Turner syndrome. Circulation 2019 139 28022804. (https://doi.org/10.1161/CIRCULATIONAHA.119.040552)

    • Search Google Scholar
    • Export Citation
  • 9

    Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. Journal of Medical Genetics 2007 44 745749. (https://doi.org/10.1136/jmg.2007.052019)

    • Search Google Scholar
    • Export Citation
  • 10

    Dubois D, Dubois EF. A formula to estimate the approximate surface area if height and weight be known. 1916. Nutrition 1989 5 303311 .

  • 11

    Sakamoto I, Sueyoshi E, Uetani M. MR imaging of the aorta. Magnetic Resonance Imaging Clinics of North America 2010 18 4355. (https://doi.org/10.1016/j.mric.2009.09.004)

    • Search Google Scholar
    • Export Citation
  • 12

    Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome – integrating cardiology, genetics, and endocrinology. Endocrine Reviews 2012 33 677714. (https://doi.org/10.1210/er.2011-1059)

    • Search Google Scholar
    • Export Citation
  • 13

    Corbitt H, Morris SA, Gravholt CH, Mortensen KH, Tippner-Hedges R, Silberbach M, Maslen CL & GenTAC Registry Investigators. TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLoS Genetics 2018 14 e1007692 . (https://doi.org/10.1371/journal.pgen.1007692)

    • Search Google Scholar
    • Export Citation
  • 14

    Mortensen KH, Wen J, Erlandsen M, Trolle C, Ringgaard S, Gutmark EJ, Gutmark-Little I, Andersen NH, Gravholt CH. Aortic growth rates are not increased in Turner syndrome-a prospective CMR study. European Heart Journal Cardiovascular Imaging 2019 20 11641170. (https://doi.org/10.1093/ehjci/jez065)

    • Search Google Scholar
    • Export Citation
  • 15

    Duijnhouwer AL, Bons LR, Timmers HJLM, Van Kimmenade RRL, Snoeren M, Timmermans J, Van Den Hoven AT, Kempers M, Van APJ & Fleischer K Aortic dilatation and outcome in women with Turner syndrome. Heart 2019 105 693700. (https://doi.org/10.1136/heartjnl-2018-313716)

    • Search Google Scholar
    • Export Citation
  • 16

    Tennyson M. Question 2: in children with Marfan’s should we beta block from point of diagnosis? Archives of Disease in Childhood 2018 103 9971000. . (https://doi.org/10.1136/archdischild-2018-315848)

    • Search Google Scholar
    • Export Citation
  • 17

    Fuchs MM, Attenhofer Jost C, Babovic‐Vuksanovic D, Connolly HM, Egbe A. Long-term outcomes in patients with Turner syndrome: a 68‐year follow-up. Journal of the American Heart Association 2019 8 e011501. (https://doi.org/10.1161/JAHA.118.011501)

    • Search Google Scholar
    • Export Citation
  • 18

    Bollache E, Knott KD, Jarvis K, Boubertakh R, Dolan RS, Camaioni C, Collins L, Scully P, Rabin S & Treibel T Two-minute k-space and time–accelerated aortic four-dimensional flow MRI: dual-center study of feasibility and impact on velocity and wall shear stress quantification. Radiology. Cardiothoracic Imaging 2019 1 e180008. (https://doi.org/10.1148/ryct.2019180008)

    • Search Google Scholar
    • Export Citation
  • 19

    Prakash SK, Lugo-Ruiz S, Rivera-Dávila M, Rubio N, Shah AN, Knickmeyer RC, Scurlock C, Crenshaw M, Davis SM, Scientific Advisory Board of the TSRR The Turner syndrome research registry: creating equipoise between investigators and participants. American Journal of Medical Genetics, Part C 2019 181 135140. (https://doi.org/10.1002/ajmg.c.31689)

    • Search Google Scholar
    • Export Citation