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Population-Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath-Holding Spells in Swedish Children

Schmidt, Sanna Hellström LU orcid ; Jeremiasen, Ida LU orcid ; Eklund, Erik A. LU and Pronk, Kees-Jan LU (2026) In Acta Paediatrica, International Journal of Paediatrics
Abstract

Aim: An electrocardiogram is commonly recommended in breath-holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath-holding spells in a paediatric population in southern Sweden. Methods: Data on patient characteristics and diagnostic findings were reviewed for patients aged < 10 years who were diagnosed with long QT syndrome between 2004 and 2018. Results: Sixteen children were diagnosed with long QT syndrome; 10 were diagnosed through genetic screening, 4 following perinatal cardiac symptoms, and 2 due to episodes of syncope or seizures later diagnosed as epilepsy and breath-holding spells. Three patients were > 24 months old at... (More)

Aim: An electrocardiogram is commonly recommended in breath-holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath-holding spells in a paediatric population in southern Sweden. Methods: Data on patient characteristics and diagnostic findings were reviewed for patients aged < 10 years who were diagnosed with long QT syndrome between 2004 and 2018. Results: Sixteen children were diagnosed with long QT syndrome; 10 were diagnosed through genetic screening, 4 following perinatal cardiac symptoms, and 2 due to episodes of syncope or seizures later diagnosed as epilepsy and breath-holding spells. Three patients were > 24 months old at suspicion of long QT syndrome, and 10 were < 3 months old. No patient exhibited symptoms directly attributable to long QT syndrome, and no diagnosis of long QT syndrome was delayed due to suspicion of or misdiagnosis as breath-holding spells. Conclusions: The number of symptomatic long QT syndrome cases overlapping with the presentation of breath-holding spells is likely small. The findings of this study suggest that children < 3 months old with suspected breath-holding spells should undergo an electrocardiogram.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
breath-holding spells, electrocardiography, long QT syndrome, misdiagnosis
in
Acta Paediatrica, International Journal of Paediatrics
publisher
Wiley-Blackwell
external identifiers
  • scopus:105028282338
  • pmid:41569867
ISSN
0803-5253
DOI
10.1111/apa.70460
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2026 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.
id
95803f5c-9d95-473a-94ff-c138c753d38b
date added to LUP
2026-02-25 15:54:13
date last changed
2026-02-26 03:35:48
@article{95803f5c-9d95-473a-94ff-c138c753d38b,
  abstract     = {{<p>Aim: An electrocardiogram is commonly recommended in breath-holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath-holding spells in a paediatric population in southern Sweden. Methods: Data on patient characteristics and diagnostic findings were reviewed for patients aged &lt; 10 years who were diagnosed with long QT syndrome between 2004 and 2018. Results: Sixteen children were diagnosed with long QT syndrome; 10 were diagnosed through genetic screening, 4 following perinatal cardiac symptoms, and 2 due to episodes of syncope or seizures later diagnosed as epilepsy and breath-holding spells. Three patients were &gt; 24 months old at suspicion of long QT syndrome, and 10 were &lt; 3 months old. No patient exhibited symptoms directly attributable to long QT syndrome, and no diagnosis of long QT syndrome was delayed due to suspicion of or misdiagnosis as breath-holding spells. Conclusions: The number of symptomatic long QT syndrome cases overlapping with the presentation of breath-holding spells is likely small. The findings of this study suggest that children &lt; 3 months old with suspected breath-holding spells should undergo an electrocardiogram.</p>}},
  author       = {{Schmidt, Sanna Hellström and Jeremiasen, Ida and Eklund, Erik A. and Pronk, Kees-Jan}},
  issn         = {{0803-5253}},
  keywords     = {{breath-holding spells; electrocardiography; long QT syndrome; misdiagnosis}},
  language     = {{eng}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Acta Paediatrica, International Journal of Paediatrics}},
  title        = {{Population-Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath-Holding Spells in Swedish Children}},
  url          = {{http://dx.doi.org/10.1111/apa.70460}},
  doi          = {{10.1111/apa.70460}},
  year         = {{2026}},
}