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Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls

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Abstract

The aim of this study was to compare the size and geometry of the aorta in patients with 7q11.23 duplication (Dup7) to healthy controls. We retrospectively reviewed all echocardiograms in all patients with Dup7 evaluated at our institutions from June 2017 through September 2019. All standard aortic diameter measurements were made and recorded. Z-scores for the measurements were calculated. For comparison, a set of control echocardiograms was developed by randomly selecting 24 normal echocardiograms in age-matched patients who had undergone echocardiograms for an indication of either chest pain or syncope. In 58 echocardiograms from 21 Dup7 patients, all aortic measurements were increased compared to controls (p < 0.0001). Effacement of the sinotubular junction (STJ) of the aorta was present in all Dup7 patients. Our novel STJ-to-aortic annulus ratio of ≥ 1.15 had a 98.28% sensitivity (95% CI 90.76–99.96) and 100% specificity (95% CI 85.75–100) for distinguishing Dup7 from controls with a positive predictive value of 100% and a negative predictive value of 96.00% (95% CI 77.47–99.41). All patients in our study with Dup7 had echocardiographic evidence of aortopathy. Effacement of the STJ was present in all Dup7 patients. The STJ-to-annulus ratio is a better indicator of aortopathy in Dup7 than the aortic Z-score.

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Abbreviations

Dup7:

7Q11.23 duplication syndrome

WS:

Williams syndrome

STJ:

Sinotubular junction

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Funding

No funding was received for the conductance of this study.

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Authors and Affiliations

  1. Lucile Packard Children’s Hospital Stanford, 750 Welch Road, Suite 321, Palo Alto, CA, 94304, USA

    Kirstie M. Lechich & R. Thomas Collins II

  2. Division of Pediatric Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, USA

    R. Thomas Collins II

  3. Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, USA

    R. Thomas Collins II

  4. Division of Cardiovascular Medicine, Department of Internal Medicine, Stanford University School of Medicine, Palo Alto, CA, USA

    R. Thomas Collins II

  5. Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Yuri A. Zarate & Joshua A . Daily

  6. Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Yuri A. Zarate

  7. Pediatric Cardiology, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Joshua A . Daily

Authors
  1. Kirstie M. Lechich
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  2. Yuri A. Zarate
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  3. Joshua A . Daily
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  4. R. Thomas Collins II
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Correspondence to R. Thomas Collins II.

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Conflict of interest

All authors have participated in the concept and design; analysis and interpretation of data; drafting or revising of the manuscript, and that they have approved the manuscript as submitted. None of the article contents are under consideration for publication in any other journal. There are no prior submissions with any overlapping information. None of the authors has any potential conflicts of interest, real or perceived, relative to this manuscript. The authors have no financial disclosures to make.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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This was a retrospective study, and the need for consent was waived by the Institutional Review Board.

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Lechich, K.M., Zarate, Y.A., Daily, J.A... et al. Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls. Pediatr Cardiol 41, 1199–1205 (2020). https://doi.org/10.1007/s00246-020-02375-2

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  • DOI: https://doi.org/10.1007/s00246-020-02375-2

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