Phenotypes of Overdiagnosed Long QT Syndrome.

Female Male Humans Syncope, Vasovagal / complications Long QT Syndrome / diagnosis Death, Sudden, Cardiac / prevention & control Heart Arrest / etiology Phenotype Electrocardiography
VUS electrocardiography genetic screening long QT syndrome sudden death syncope

Journal

Journal of the American College of Cardiology
ISSN: 1558-3597
Titre abrégé: J Am Coll Cardiol
Pays: United States
ID NLM: 8301365

Informations de publication

Date de publication:
07 02 2023
Historique:
received: 19 09 2022
revised: 18 10 2022
accepted: 03 11 2022
entrez: 1 2 2023
pubmed: 2 2 2023
medline: 4 2 2023
Statut: ppublish

Résumé

Long QT syndrome (LQTS) predisposes individuals to arrhythmic syncope or seizure, sudden cardiac arrest, or sudden cardiac death (SCD). Increased physician and public awareness of LQTS-associated warning signs and an increase in electrocardiographic screening programs may contribute to overdiagnosis of LQTS. This study sought to identify the diagnostic miscues underlying the continued overdiagnosis of LQTS. Electronic medical records were reviewed for patients who arrived with an outside diagnosis of LQTS but were dismissed as having normal findings subsequently. Data were abstracted for details on referral, clinical history, and both cardiologic and genetic test results. Overall, 290 of 1,841 (16%) patients with original diagnosis of LQTS (174 [60%] female; mean age at first Mayo Clinic evaluation, 22 ± 14 years; mean QTc interval, 427 ± 25 milliseconds) were dismissed as having normal findings. The main cause of LQTS misdiagnosis or overdiagnosis was a prolonged QTc interval secondary to vasovagal syncope (n = 87; 30%), followed by a seemingly positive genetic test result for a variant in 1 of the main LQTS genes (n = 68; 23%) that was ultimately deemed not to be of clinical significance. Furthermore, patients received misdiagnoses because of a positive family history of SCD that was deemed unrelated to LQTS (n = 46; 16%), isolated/transient QT prolongation (n = 44; 15%), or misinterpretation of the QTc interval as a result of inclusion of the U-wave (n = 40, 14%). Knowing the 5 main determinants of discordance between a previously rendered diagnosis of LQTS and full diagnostic reversal or removal (vasovagal syncope, "pseudo"-positive genetic test result in LQTS-causative genes, family history of SCD, transient QT prolongation, and misinterpretation of the QTc interval) increases awareness and provides critical guidance to reduce this burden of overdiagnosed LQTS.

Sections du résumé

BACKGROUND
Long QT syndrome (LQTS) predisposes individuals to arrhythmic syncope or seizure, sudden cardiac arrest, or sudden cardiac death (SCD). Increased physician and public awareness of LQTS-associated warning signs and an increase in electrocardiographic screening programs may contribute to overdiagnosis of LQTS.
OBJECTIVES
This study sought to identify the diagnostic miscues underlying the continued overdiagnosis of LQTS.
METHODS
Electronic medical records were reviewed for patients who arrived with an outside diagnosis of LQTS but were dismissed as having normal findings subsequently. Data were abstracted for details on referral, clinical history, and both cardiologic and genetic test results.
RESULTS
Overall, 290 of 1,841 (16%) patients with original diagnosis of LQTS (174 [60%] female; mean age at first Mayo Clinic evaluation, 22 ± 14 years; mean QTc interval, 427 ± 25 milliseconds) were dismissed as having normal findings. The main cause of LQTS misdiagnosis or overdiagnosis was a prolonged QTc interval secondary to vasovagal syncope (n = 87; 30%), followed by a seemingly positive genetic test result for a variant in 1 of the main LQTS genes (n = 68; 23%) that was ultimately deemed not to be of clinical significance. Furthermore, patients received misdiagnoses because of a positive family history of SCD that was deemed unrelated to LQTS (n = 46; 16%), isolated/transient QT prolongation (n = 44; 15%), or misinterpretation of the QTc interval as a result of inclusion of the U-wave (n = 40, 14%).
CONCLUSIONS
Knowing the 5 main determinants of discordance between a previously rendered diagnosis of LQTS and full diagnostic reversal or removal (vasovagal syncope, "pseudo"-positive genetic test result in LQTS-causative genes, family history of SCD, transient QT prolongation, and misinterpretation of the QTc interval) increases awareness and provides critical guidance to reduce this burden of overdiagnosed LQTS.

Identifiants

DOI: 10.1016/j.jacc.2022.11.036 PMID: 36725176
pubmed: 36725176
pii: S0735-1097(22)07533-7
doi: 10.1016/j.jacc.2022.11.036
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

477-486

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR002377
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2023 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Funding Support and Author Disclosures This work was supported by the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program and the Mayo Clinic Center for Translational Science Activities through grant number UL1TR002377 from the National Center for Advancing Translational Sciences, a component of the National Institutes of Health. Dr Ackerman has received support for this work from the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program; has served as a consultant for Abbott, Boston Scientific, Bristol Myers Squibb, Daiichi-Sankyo, Invitae, Medtronic, Tenaya Therapeutics, Thryv Therapeutics, and UpToDate, outside this study; and, with Mayo Clinic, has license agreements with AliveCor, Anumana, ARMGO Pharma, and Pfizer, outside this study. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Auteurs

Sahej Bains (S)

Medical Scientist Training Program, Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, Minnesota, USA; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA.

Raquel Neves (R)

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA.

J Martijn Bos (JM)

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA; Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.

John R Giudicessi (JR)

Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Ciorsti MacIntyre (C)

Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Michael J Ackerman (MJ)

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA; Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: ackerman.michael@mayo.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Perte de conscience › Syncope › Syncope vagale › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Syndrome du QT long › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Mort › Mort subite › Mort subite cardiaque › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Arrêt cardiaque › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Phenotypes of Overdiagnosed Long QT Syndrome.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électrocardiographie › Phenotypes of Overdiagnosed Long QT Syndrome.