Startseite Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome
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Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome

  • Mark L. Graber EMAIL logo , Andrew P. J. Olson und Tanya Barnett
Veröffentlicht/Copyright: 18. Januar 2021
Diagnosis
Aus der Zeitschrift Diagnosis Band 8 Heft 3

Abstract

We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica’s diagnostic journey. Key lessons in this case include the value of family as engaged members of the diagnostic team, that a ‘hyperventilation test’ should not be used to exclude cardiac origins of syncope or pre-syncope, and the inherent challenges in the diagnosis of the long QT syndrome.


Corresponding author: Mark L. Graber, MD, Society to Improve Diagnosis in Medicine, Plymouth, MA, USA, Phone: +1 607 305 0050, E-mail:

  1. Research funding: This report was not based on research funding.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: All named individuals consented to be included. Tanya Barnett was involved in the case as the patient’s parent and consented to including the picture of her daughter.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

  6. Note: The major clinicians involved in the case were invited to participate in authoring this report and declined. The major clinicians involved in the case were invited to contribute content from their perspective, and declined.

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Received: 2020-08-13
Accepted: 2020-12-05
Published Online: 2021-01-18
Published in Print: 2021-08-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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