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Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan
  1. Kristian H Mortensen1,
  2. Luciana Young2,3,
  3. Julie De Backer4,
  4. Michael Silberbach5,
  5. Ronnie Thomas Collins6,
  6. Anthonie L Duijnhouwer7,
  7. Bejal Pandya8,
  8. Claus H Gravholt9,10,
  9. Leo Lopez11,
  10. Jolien W Roos-Hesselink12
  1. 1 Cardiorespiratory Unit, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK
  2. 2 Division of Cardiology, Seattle Children’s Hospital, Seattle, Washington, USA
  3. 3 Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
  4. 4 Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  5. 5 Department of Pediatrics, Doernbecher Children’s Hospital, Oregon Health and Science University, Portland, Oregon, USA
  6. 6 Department of Pediatrics, Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford, California, USA
  7. 7 Cardiology Department, Radboud University Medical Centre, Nijmegen, The Netherlands
  8. 8 Department of Adult Congenital Cardiology, Bart’s Heart Centre, Bart’s Health NHS Trust, London, UK
  9. 9 Department of Endocrinology and Internal Medicine, and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
  10. 10 Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
  11. 11 Pediatric Cardiology, Nicklaus Children’s Hospital, Herbert Wertheim College of Medicine at Florida International University, Miami, Florida, USA
  12. 12 Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands
  1. Correspondence to Dr Kristian H Mortensen, Cardiorespiratory Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK; kristian.mortensen{at}gosh.nhs.uk

Abstract

Cardiovascular imaging is essential to providing excellent clinical care for girls and women with Turner syndrome (TS). Congenital and acquired cardiovascular diseases are leading causes of the lifelong increased risk of premature death in TS. Non-invasive cardiovascular imaging is crucial for timely diagnosis and treatment planning, and a systematic and targeted imaging approach should combine echocardiography, cardiovascular magnetic resonance and, in select cases, cardiac CT. In recent decades, evidence has mounted for the need to perform cardiovascular imaging in all females with TS irrespective of karyotype and phenotype. This is due to the high incidence of outcome-determining lesions that often remain subclinical and occur in patterns specific to TS. This review provides an overview of state-of-the-art cardiovascular imaging practice in TS, by means of a review of the most recent literature, in the context of a recent consensus statement that has highlighted the role of cardiovascular diseases in these females.

  • aortic and arterial disease
  • congenital heart disease
  • cardiac computer tomographic (ct) imaging
  • cardiac magnetic resonance (cmr) imaging
  • echocardiography
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Footnotes

  • Contributors All authors have contributed to the drafting of the manuscript, and all authors have approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Commissioned; externally peer reviewed.

  • Correction notice Since this article was first published online figure 4 has been updated.

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