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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 and Tanya Barnett
Published/Copyright: January 18, 2021
Diagnosis
From the journal Diagnosis Volume 8 Issue 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.

Keywords: diagnostic error; long QT syndrome; syncope
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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https://doi.org/10.1515/dx-2020-0113
Keywords for this article
diagnostic error; long QT syndrome; syncope

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Chest pain management and biomarkers: the lack of trust in cardiac troponins measurement
  4. Reviews
  5. Bringing the clinical laboratory into the strategy to advance diagnostic excellence
  6. Atrial fibrillation: is there a role for cardiac troponin?
  7. Opinion Papers
  8. Towards better metainterpretation: improving the clinician’s interpretation of the radiology report
  9. The challenges of diagnosing diabetes in childhood
  10. Guidelines and Recommendations
  11. Measuring patient experience of diagnostic care and acceptability of testing
  12. Original Articles
  13. Clinical assessment of the Roche SARS-CoV-2 rapid antigen test
  14. Delayed treatment of bacteremia during the COVID-19 pandemic
  15. Strengths and weaknesses in the diagnostic process of endometriosis from the patients’ perspective: a focus group study
  16. Identifying trigger concepts to screen emergency department visits for diagnostic errors
  17. Handshake antimicrobial stewardship as a model to recognize and prevent diagnostic errors
  18. Uncertain diagnoses in a children’s hospital: patient characteristics and outcomes
  19. The effects of rudeness, experience, and perspective-taking on challenging premature closure after pediatric ICU physicians receive hand-off with the wrong diagnosis: a randomized controlled simulation trial
  20. Resident-faculty overnight discrepancy rates as a function of number of consecutive nights during a week of night float
  21. CONUT: a tool to assess nutritional status. First application in a primary care population
  22. Is there a real need for sputum culture for community-acquired pneumonia diagnostics? Results from a retrospective study in Russia
  23. Differentiating solid breast masses: comparison of the diagnostic efficacy of shear wave elastography and magnetic resonance imaging
  24. Short Communication
  25. Chest pain management: use of troponins in internal medicine wards
  26. Case Report
  27. Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome
  28. Letters to the Editor
  29. Usability of non-medicinal swabs for SARS-CoV-2 detection to circumvent supply shortages
  30. Medical decision making during the COVID-19 epidemic: an opportunity to think how we think
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